Autosomal recessive disease
MONDO:0006025Autosomal recessive form of disease.
Also known as: autosomal recessive disease or disorder, autosomal recessive hereditary disease, autosomal recessive hereditary disorder, autosomal recessive inherited disease, autosomal recessive inherited disorder, disease or disorder, autosomal recessive, disease, autosomal recessive, recessive hereditary disorder (autosomal)
999 clinical trials for this condition and its sub-types, 4 tagged with Autosomal recessive disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Autosomal recessive disease
-
Sickle cell disease 343 trials
-
Cystic fibrosis 285 trials
1 sub-type
-
Autosomal recessive cerebellar ataxia 0 trials · 72 incl. sub-types
29 sub-types
- Autosomal recessive degenerative and progressive cerebellar ataxia 0 trials · 49 incl. sub-types Sub-types →
- Autosomal recessive metabolic cerebellar ataxia 0 trials · 10 incl. sub-types Sub-types →
- Autosomal recessive congenital cerebellar ataxia 0 trials · 7 incl. sub-types Sub-types →
- Autosomal recessive syndromic cerebellar ataxia 0 trials · 2 incl. sub-types Sub-types →
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 0 trials · 2 incl. sub-types Sub-types →
- Charlevoix-Saguenay spastic ataxia 1 trial
- Autosomal recessive spinocerebellar ataxia 7 1 trial
- Lichtenstein-Knorr syndrome 0 trials
- RIDDLE syndrome 0 trials
- Ataxia with oculomotor apraxia type 3 0 trials
- Autosomal recessive ataxia due to ubiquinone deficiency 0 trials
- Autosomal recessive ataxia, Beauce type 0 trials
- Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome 0 trials Sub-types →
- Autosomal recessive spinocerebellar ataxia 10 0 trials
- Autosomal recessive spinocerebellar ataxia 14 0 trials
- Autosomal recessive spinocerebellar ataxia 16 0 trials
- Autosomal recessive spinocerebellar ataxia 20 0 trials
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia 0 trials
- Spinocerebellar ataxia, autosomal recessive 22 0 trials
- Spinocerebellar ataxia, autosomal recessive 24 0 trials
- Spinocerebellar ataxia, autosomal recessive 25 0 trials
- Spinocerebellar ataxia, autosomal recessive 26 0 trials
- Spinocerebellar ataxia, autosomal recessive 27 0 trials
- Spinocerebellar ataxia, autosomal recessive 28 0 trials
- Spinocerebellar ataxia, autosomal recessive 29 0 trials
- Spinocerebellar ataxia, autosomal recessive 30 0 trials
- Spinocerebellar ataxia, autosomal recessive 31 0 trials
- Spinocerebellar ataxia, autosomal recessive 32 0 trials
- Spinocerebellar ataxia, autosomal recessive 33 0 trials
-
Phenylketonuria 57 trials · 60 incl. sub-types
5 sub-types
- Classic phenylketonuria 4 trials
- Maternal phenylketonuria 3 trials
- Mild hyperphenylalaninemia 3 trials
- Mild phenylketonuria 0 trials
- Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 0 trials
-
Mismatch repair cancer syndrome 5 trials · 36 incl. sub-types
4 sub-types
- Mismatch repair cancer syndrome 1 34 trials
- Mismatch repair cancer syndrome 2 0 trials
- Mismatch repair cancer syndrome 3 0 trials
- Mismatch repair cancer syndrome 4 0 trials
-
Autosomal recessive limb-girdle muscular dystrophy 0 trials · 18 incl. sub-types
32 sub-types
- Autosomal recessive limb-girdle muscular dystrophy type 2I 8 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2A 5 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2E 5 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2C 4 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2B 3 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2D 3 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2F 2 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2L 2 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2G 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2J 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2K 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2M 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2N 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2O 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2P 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2Q 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2R1 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2T 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2U 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2W 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2X 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2Y 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type R18 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2H 0 trials
- Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 trials
- Limb-girdle muscular dystrophy due to POMK deficiency 0 trials
- Muscular dystrophy, limb-girdle, autosomal recessive 23 0 trials
- Muscular dystrophy, limb-girdle, autosomal recessive 26 0 trials
- Muscular dystrophy, limb-girdle, autosomal recessive 27 0 trials
- Muscular dystrophy, limb-girdle, autosomal recessive 28 0 trials
- Muscular dystrophy, limb-girdle, autosomal recessive 29 0 trials
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 0 trials
-
Hearing loss, autosomal recessive 1 trial · 17 incl. sub-types
102 sub-types
- Autosomal recessive nonsyndromic hearing loss 9 9 trials
- Autosomal recessive nonsyndromic hearing loss 39 3 trials
- Autosomal recessive nonsyndromic hearing loss 1A 2 trials
- Autosomal recessive nonsyndromic hearing loss 23 1 trial
- Autosomal recessive nonsyndromic hearing loss 5 1 trial
- Autosomal recessive nonsyndromic hearing loss 93 1 trial
- Hearing loss, autosomal recessive 118, with cochlear aplasia 1 trial
- Autosomal recessive nonsyndromic hearing loss 101 0 trials
- Autosomal recessive nonsyndromic hearing loss 102 0 trials
- Autosomal recessive nonsyndromic hearing loss 103 0 trials
- Autosomal recessive nonsyndromic hearing loss 104 0 trials
- Autosomal recessive nonsyndromic hearing loss 12 0 trials
- Autosomal recessive nonsyndromic hearing loss 124 0 trials
- Autosomal recessive nonsyndromic hearing loss 13 0 trials
- Autosomal recessive nonsyndromic hearing loss 14 0 trials
- Autosomal recessive nonsyndromic hearing loss 15 0 trials
- Autosomal recessive nonsyndromic hearing loss 16 0 trials
- Autosomal recessive nonsyndromic hearing loss 17 0 trials
- Autosomal recessive nonsyndromic hearing loss 18A 0 trials
- Autosomal recessive nonsyndromic hearing loss 18B 0 trials
- Autosomal recessive nonsyndromic hearing loss 1B 0 trials
- Autosomal recessive nonsyndromic hearing loss 2 0 trials
- Autosomal recessive nonsyndromic hearing loss 20 0 trials
- Autosomal recessive nonsyndromic hearing loss 21 0 trials
- Autosomal recessive nonsyndromic hearing loss 22 0 trials
- Autosomal recessive nonsyndromic hearing loss 24 0 trials
- Autosomal recessive nonsyndromic hearing loss 25 0 trials
- Autosomal recessive nonsyndromic hearing loss 26 0 trials
- Autosomal recessive nonsyndromic hearing loss 27 0 trials
- Autosomal recessive nonsyndromic hearing loss 28 0 trials
- Autosomal recessive nonsyndromic hearing loss 29 0 trials
- Autosomal recessive nonsyndromic hearing loss 3 0 trials
- Autosomal recessive nonsyndromic hearing loss 30 0 trials
- Autosomal recessive nonsyndromic hearing loss 31 0 trials
- Autosomal recessive nonsyndromic hearing loss 32 0 trials
- Autosomal recessive nonsyndromic hearing loss 33 0 trials
- Autosomal recessive nonsyndromic hearing loss 35 0 trials
- Autosomal recessive nonsyndromic hearing loss 36 0 trials
- Autosomal recessive nonsyndromic hearing loss 37 0 trials
- Autosomal recessive nonsyndromic hearing loss 38 0 trials
- Autosomal recessive nonsyndromic hearing loss 4 0 trials
- Autosomal recessive nonsyndromic hearing loss 40 0 trials
- Autosomal recessive nonsyndromic hearing loss 42 0 trials
- Autosomal recessive nonsyndromic hearing loss 44 0 trials
- Autosomal recessive nonsyndromic hearing loss 45 0 trials
- Autosomal recessive nonsyndromic hearing loss 46 0 trials
- Autosomal recessive nonsyndromic hearing loss 47 0 trials
- Autosomal recessive nonsyndromic hearing loss 48 0 trials
- Autosomal recessive nonsyndromic hearing loss 49 0 trials
- Autosomal recessive nonsyndromic hearing loss 51 0 trials
- Autosomal recessive nonsyndromic hearing loss 53 0 trials
- Autosomal recessive nonsyndromic hearing loss 55 0 trials
- Autosomal recessive nonsyndromic hearing loss 59 0 trials
- Autosomal recessive nonsyndromic hearing loss 6 0 trials
- Autosomal recessive nonsyndromic hearing loss 61 0 trials
- Autosomal recessive nonsyndromic hearing loss 62 0 trials
- Autosomal recessive nonsyndromic hearing loss 63 0 trials
- Autosomal recessive nonsyndromic hearing loss 65 0 trials
- Autosomal recessive nonsyndromic hearing loss 66 0 trials
- Autosomal recessive nonsyndromic hearing loss 67 0 trials
- Autosomal recessive nonsyndromic hearing loss 68 0 trials
- Autosomal recessive nonsyndromic hearing loss 7 0 trials
- Autosomal recessive nonsyndromic hearing loss 70 0 trials
- Autosomal recessive nonsyndromic hearing loss 71 0 trials
- Autosomal recessive nonsyndromic hearing loss 74 0 trials
- Autosomal recessive nonsyndromic hearing loss 76 0 trials
- Autosomal recessive nonsyndromic hearing loss 77 0 trials
- Autosomal recessive nonsyndromic hearing loss 79 0 trials
- Autosomal recessive nonsyndromic hearing loss 8 0 trials
- Autosomal recessive nonsyndromic hearing loss 83 0 trials
- Autosomal recessive nonsyndromic hearing loss 84A 0 trials
- Autosomal recessive nonsyndromic hearing loss 84B 0 trials
- Autosomal recessive nonsyndromic hearing loss 85 0 trials
- Autosomal recessive nonsyndromic hearing loss 86 0 trials
- Autosomal recessive nonsyndromic hearing loss 88 0 trials
- Autosomal recessive nonsyndromic hearing loss 89 0 trials
- Autosomal recessive nonsyndromic hearing loss 91 0 trials
- Autosomal recessive nonsyndromic hearing loss 96 0 trials
- Autosomal recessive nonsyndromic hearing loss 97 0 trials
- Autosomal recessive nonsyndromic hearing loss 98 0 trials
- Hearing loss, autosomal recessive 100 0 trials
- Hearing loss, autosomal recessive 106 0 trials
- Hearing loss, autosomal recessive 107 0 trials
- Hearing loss, autosomal recessive 108 0 trials
- Hearing loss, autosomal recessive 109 0 trials
- Hearing loss, autosomal recessive 110 0 trials
- Hearing loss, autosomal recessive 111 0 trials
- Hearing loss, autosomal recessive 112 0 trials
- Hearing loss, autosomal recessive 113 0 trials
- Hearing loss, autosomal recessive 114 0 trials
- Hearing loss, autosomal recessive 115 0 trials
- Hearing loss, autosomal recessive 116 0 trials
- Hearing loss, autosomal recessive 117 0 trials
- Hearing loss, autosomal recessive 119 0 trials
- Hearing loss, autosomal recessive 120 0 trials
- Hearing loss, autosomal recessive 121 0 trials
- Hearing loss, autosomal recessive 122 0 trials
- Hearing loss, autosomal recessive 123 0 trials
- Hearing loss, autosomal recessive 125 0 trials
- Hearing loss, autosomal recessive 57 0 trials
- Hearing loss, autosomal recessive 94 0 trials
- Hearing loss, autosomal recessive 99 0 trials
-
Netherton syndrome 16 trials
-
Usher syndrome 14 trials · 16 incl. sub-types
5 sub-types
- Usher syndrome type 1 0 trials · 3 incl. sub-types Sub-types →
- Usher syndrome type 2 2 trials · 3 incl. sub-types Sub-types →
- Usher syndrome type 3 0 trials Sub-types →
- Usher syndrome, type 4 0 trials
- Retinitis pigmentosa-deafness syndrome 0 trials
-
Niemann-Pick disease type C 12 trials · 13 incl. sub-types
7 sub-types
- Niemann-Pick disease, type C1 2 trials
- Niemann-Pick disease, type C2 1 trial
- Niemann-Pick disease type C, adult neurologic onset 0 trials
- Niemann-Pick disease type C, juvenile neurologic onset 0 trials
- Niemann-Pick disease type C, late infantile neurologic onset 0 trials
- Niemann-Pick disease type C, severe early infantile neurologic onset 0 trials
- Niemann-Pick disease type C, severe perinatal form 0 trials
-
Aicardi-Goutieres syndrome 9 trials
10 sub-types
- Aicardi-Goutieres syndrome 1 2 trials Sub-types →
- Aicardi-Goutieres syndrome 2 0 trials
- Aicardi-Goutieres syndrome 3 0 trials
- Aicardi-Goutieres syndrome 4 0 trials
- Aicardi-Goutieres syndrome 5 0 trials
- Aicardi-Goutieres syndrome 6 0 trials
- Aicardi-Goutieres syndrome 7 0 trials
- Aicardi-Goutieres syndrome 8 0 trials
- Aicardi-Goutieres syndrome 9 0 trials
- Basal ganglia calcification, idiopathic, childhood-onset 0 trials
-
RPE65-related recessive retinopathy 5 trials · 8 incl. sub-types
2 sub-types
- Leber congenital amaurosis 2 3 trials
- Retinitis pigmentosa 20 0 trials
-
Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types
2 sub-types
- Zellweger spectrum disorders 6 trials · 7 incl. sub-types Sub-types →
- Non-Zellweger spectrum disorder 0 trials · 1 incl. sub-types Sub-types →
-
Autosomal recessive primary microcephaly 0 trials · 8 incl. sub-types
29 sub-types
- Microcephaly with or without short stature 0 trials · 8 incl. sub-types Sub-types →
- Microcephalic primordial dwarfism due to ZNF335 deficiency 0 trials
- Microcephaly 1, primary, autosomal recessive 0 trials
- Microcephaly 11, primary, autosomal recessive 0 trials
- Microcephaly 12, primary, autosomal recessive 0 trials
- Microcephaly 13, primary, autosomal recessive 0 trials
- Microcephaly 14, primary, autosomal recessive 0 trials
- Microcephaly 15, primary, autosomal recessive 0 trials
- Microcephaly 16, primary, autosomal recessive 0 trials
- Microcephaly 17, primary, autosomal recessive 0 trials
- Microcephaly 19, primary, autosomal recessive 0 trials
- Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 trials
- Microcephaly 20, primary, autosomal recessive 0 trials
- Microcephaly 21, primary, autosomal recessive 0 trials
- Microcephaly 22, primary, autosomal recessive 0 trials
- Microcephaly 23, primary, autosomal recessive 0 trials
- Microcephaly 24, primary, autosomal recessive 0 trials
- Microcephaly 25, primary, autosomal recessive 0 trials
- Microcephaly 28, primary, autosomal recessive 0 trials
- Microcephaly 29, primary, autosomal recessive 0 trials
- Microcephaly 3, primary, autosomal recessive 0 trials
- Microcephaly 30, primary, autosomal recessive 0 trials
- Microcephaly 31, primary, autosomal recessive 0 trials
- Microcephaly 4, primary, autosomal recessive 0 trials
- Microcephaly 5, primary, autosomal recessive 0 trials
- Microcephaly 7, primary, autosomal recessive 0 trials
- Microcephaly 8, primary, autosomal recessive 0 trials
- Microcephaly 9, primary, autosomal recessive 0 trials
- Microcephaly with simplified gyral pattern 0 trials
-
Bardet-Biedl syndrome 6 trials · 7 incl. sub-types
22 sub-types
- Bardet-Biedl syndrome 1 1 trial
- Bardet-Biedl syndrome 10 0 trials
- Bardet-Biedl syndrome 11 0 trials
- Bardet-Biedl syndrome 12 0 trials
- Bardet-Biedl syndrome 13 0 trials
- Bardet-Biedl syndrome 14 0 trials
- Bardet-Biedl syndrome 15 0 trials
- Bardet-Biedl syndrome 16 0 trials
- Bardet-Biedl syndrome 17 0 trials
- Bardet-Biedl syndrome 18 0 trials
- Bardet-Biedl syndrome 19 0 trials
- Bardet-Biedl syndrome 2 0 trials
- Bardet-Biedl syndrome 20 0 trials
- Bardet-Biedl syndrome 22 0 trials
- Bardet-Biedl syndrome 3 0 trials
- Bardet-Biedl syndrome 4 0 trials
- Bardet-Biedl syndrome 5 0 trials
- Bardet-Biedl syndrome 6 0 trials
- Bardet-Biedl syndrome 7 0 trials
- Bardet-Biedl syndrome 8 0 trials
- Bardet-Biedl syndrome 9 0 trials
- Bardet-biedl syndrome 21 0 trials
-
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 6 trials · 7 incl. sub-types
4 sub-types
-
Leukocyte adhesion deficiency 3 trials · 7 incl. sub-types
3 sub-types
- Leukocyte adhesion deficiency 1 7 trials
- Leukocyte adhesion deficiency type II 2 trials
- Leukocyte adhesion deficiency 3 0 trials
-
Cockayne syndrome 6 trials
4 sub-types
- Cockayne spectrum with or without cerebrooculofacioskeletal syndrome 0 trials
- Cockayne syndrome type 1 0 trials
- Cockayne syndrome type 2 0 trials
- Cockayne syndrome type 3 0 trials
-
2 sub-types
- Polycystic kidney disease 4 0 trials
- Polycystic kidney disease 5 0 trials
-
Autosomal recessive hypophosphatemic rickets 5 trials · 6 incl. sub-types
2 sub-types
-
Papillon-Lefevre disease 5 trials
-
Shwachman-Diamond syndrome 5 trials
3 sub-types
- DNAJC21-related Shwachman Diamond syndrome 0 trials
- Shwachman-Diamond syndrome 1 0 trials
- Shwachman-Diamond syndrome 2 0 trials
-
Niemann-Pick disease type A 4 trials
-
Nephronophthisis 4 trials
18 sub-types
- Nephronophthisis 1 4 trials
- Late-onset nephronophthisis 0 trials
- Nephronophthisis 11 0 trials
- Nephronophthisis 12 0 trials
- Nephronophthisis 13 0 trials
- Nephronophthisis 14 0 trials
- Nephronophthisis 15 0 trials
- Nephronophthisis 16 0 trials
- Nephronophthisis 18 0 trials
- Nephronophthisis 19 0 trials
- Nephronophthisis 2 0 trials
- Nephronophthisis 20 0 trials
- Nephronophthisis 3 0 trials
- Nephronophthisis 4 0 trials
- Nephronophthisis 7 0 trials
- Nephronophthisis 9 0 trials
- Nephronophthisis-like nephropathy 1 0 trials
- Nephronophthisis-like nephropathy 2 0 trials
-
Nephropathic cystinosis 4 trials
2 sub-types
- Juvenile nephropathic cystinosis 0 trials
- Nephropathic infantile cystinosis 0 trials
-
Neuronopathy, distal hereditary motor, autosomal recessive 0 trials · 4 incl. sub-types
13 sub-types
- Autosomal recessive distal spinal muscular atrophy 1 2 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 8 2 trials
- COQ7-related distal hereditary motor neuropathy 0 trials
- Autosomal recessive distal spinal muscular atrophy 2 0 trials
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 10 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 3 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 4 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 5 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 7 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 9 0 trials
- Spinal muscular atrophy, distal, autosomal recessive, 6 0 trials
-
Hutchinson-Gilford progeria syndrome 3 trials
-
Sjogren-Larsson syndrome 3 trials
-
Triple-A syndrome 3 trials
-
Autosomal recessive severe congenital neutropenia 0 trials · 3 incl. sub-types
6 sub-types
- Kostmann syndrome 3 trials
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 0 trials
- Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency 0 trials
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 0 trials
- Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 0 trials
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome 0 trials
-
Werner syndrome 2 trials
-
Autosomal recessive Alport syndrome 2 trials
-
2 sub-types
- Sideroblastic anemia 2 0 trials
- Sideroblastic anemia 3 0 trials
-
Hypercalcemia, infantile 2 trials
2 sub-types
- Hypercalcemia, infantile, 1 0 trials
- Hypercalcemia, infantile, 2 0 trials
-
Odonto-onycho-dermal dysplasia 2 trials
-
6 sub-types
- Proteasome-associated autoinflammatory syndrome 1 1 trial
- Proteasome-associated autoinflammatory syndrome 2 0 trials
- Proteasome-associated autoinflammatory syndrome 3 0 trials
- Proteasome-associated autoinflammatory syndrome 4 0 trials
- Proteasome-associated autoinflammatory syndrome 5 0 trials
- Proteasome-associated autoinflammatory syndrome 6 0 trials
-
Senior-Loken syndrome 1 trial · 2 incl. sub-types
9 sub-types
- Senior-Loken syndrome 1 1 trial
- Senior-Loken syndrome 4 0 trials
- Senior-Loken syndrome 5 0 trials
- Senior-Loken syndrome 6 0 trials
- Senior-Loken syndrome 7 0 trials
- Senior-Loken syndrome 8 0 trials
- Senior-Loken syndrome 9 0 trials
- Nephronophthisis 15 0 trials
- Senior-loken syndrome 3 0 trials
-
Autosomal recessive intermediate Charcot-Marie-Tooth disease 0 trials · 2 incl. sub-types
4 sub-types
- Charcot-Marie-Tooth disease recessive intermediate A 0 trials · 2 incl. sub-types Sub-types →
- Charcot-Marie-Tooth disease recessive intermediate B 0 trials
- Charcot-Marie-Tooth disease recessive intermediate C 0 trials
- Charcot-Marie-Tooth disease recessive intermediate D 0 trials
-
Autosomal recessive osteopetrosis 0 trials · 2 incl. sub-types
10 sub-types
- Autosomal recessive osteopetrosis 1 1 trial
- Autosomal recessive osteopetrosis 2 1 trial
- Autosomal recessive osteopetrosis 3 0 trials
- Autosomal recessive osteopetrosis 4 0 trials
- Autosomal recessive osteopetrosis 5 0 trials
- Autosomal recessive osteopetrosis 6 0 trials
- Autosomal recessive osteopetrosis 7 0 trials
- Autosomal recessive osteopetrosis 8 0 trials
- Leukocyte adhesion deficiency 3 0 trials
- Osteopetrosis, autosomal recessive 9 0 trials
-
Autosomal recessive titinopathy 0 trials · 2 incl. sub-types
7 sub-types
- Autosomal recessive limb-girdle muscular dystrophy type 2J 1 trial
- Early-onset myopathy with fatal cardiomyopathy 1 trial
- Emery-Dreifuss-like muscular dystrophy 0 trials
- Autosomal recessive centronuclear myopathy 0 trials Sub-types →
- Autosomal recessive distal titinopathy 0 trials
- Classic multiminicore myopathy 0 trials
- Titinopathy with congenital contractures 0 trials
-
Craniosynostosis syndrome, autosomal recessive 0 trials · 2 incl. sub-types
2 sub-types
- Antley-Bixler syndrome 2 trials Sub-types →
- Cranioectodermal dysplasia 0 trials Sub-types →
-
Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types
4 sub-types
- Methylcobalamin deficiency type cblE 2 trials
- Methylcobalamin deficiency type cblG 2 trials
- Homocystinuria-megaloblastic anemia cblD type 0 trials
- Methylcobalamin deficiency type cblDv1 0 trials
-
Alstrom syndrome 1 trial
-
COFS syndrome 1 trial
5 sub-types
- Cerebrooculofacioskeletal syndrome 1 0 trials
- Cerebrooculofacioskeletal syndrome 2 0 trials
- Cerebrooculofacioskeletal syndrome 3 0 trials
- Cerebrooculofacioskeletal syndrome 4 0 trials
- Xeroderma pigmentosum group G 0 trials
-
Ellis-van Creveld syndrome 1 trial
1 sub-type
- Jeune syndrome situs inversus 0 trials
-
HELIX syndrome 1 trial
-
Meier-Gorlin syndrome 1 trial
9 sub-types
- Meier-Gorlin syndrome 1 0 trials
- Meier-Gorlin syndrome 2 0 trials
- Meier-Gorlin syndrome 3 0 trials
- Meier-Gorlin syndrome 4 0 trials
- Meier-Gorlin syndrome 5 0 trials
- Meier-Gorlin syndrome 6 0 trials
- Meier-Gorlin syndrome 7 0 trials
- Meier-Gorlin syndrome 8 0 trials
- Meier-Gorlin syndrome 9 0 trials
-
Niemann-Pick disease type B 1 trial
-
Nijmegen breakage syndrome 1 trial
-
3 sub-types
-
Beta-ketothiolase deficiency 1 trial
-
Cartilage-hair hypoplasia 1 trial
1 sub-type
-
Familial adenomatous polyposis 2 1 trial
-
Human HOXA1 syndromes 1 trial
1 sub-type
- Bosley-Salih-Alorainy syndrome 0 trials
-
Hyper-IgM syndrome type 2 1 trial
-
Immunodeficiency 31B 1 trial
-
4 sub-types
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1 0 trials
- Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 trials
- Immunodeficiency-centromeric instability-facial anomalies syndrome 3 0 trials
- Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0 trials
-
GUCY2D-related recessive retinopathy 0 trials · 1 incl. sub-types
2 sub-types
-
Seckel syndrome 0 trials · 1 incl. sub-types
12 sub-types
- Seckel syndrome 7 1 trial
- Seckel syndrome 1 0 trials
- Seckel syndrome 10 0 trials
- Seckel syndrome 11 0 trials
- Seckel syndrome 2 0 trials
- Seckel syndrome 4 0 trials
- Seckel syndrome 5 0 trials
- Seckel syndrome 6 0 trials
- Seckel syndrome 8 0 trials
- Seckel syndrome 9 0 trials
- Intrauterine growth retardation with increased mitomycin c sensitivity 0 trials
- Microcephaly 13, primary, autosomal recessive 0 trials
-
Autosomal recessive ocular albinism 0 trials · 1 incl. sub-types
1 sub-type
-
Autosomal recessive spastic ataxia 0 trials · 1 incl. sub-types
7 sub-types
- Charlevoix-Saguenay spastic ataxia 1 trial
- Spastic ataxia 3 0 trials
- Spastic ataxia 4 0 trials
- Spastic ataxia 5 0 trials
- Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 trials
- Spastic ataxia-corneal dystrophy syndrome 0 trials
- Spastic ataxia-dysarthria due to glutaminase deficiency 0 trials
-
Congenital non-bullous ichthyosiform erythroderma 0 trials · 1 incl. sub-types
6 sub-types
- Autosomal recessive congenital ichthyosis 6 1 trial
- Autosomal recessive congenital ichthyosis 10 0 trials
- Autosomal recessive congenital ichthyosis 2 0 trials
- Autosomal recessive congenital ichthyosis 3 0 trials
- Autosomal recessive congenital ichthyosis 7 0 trials
- Autosomal recessive congenital ichthyosis 9 0 trials
-
Hydrolethalus syndrome 0 trials · 1 incl. sub-types
2 sub-types
- Hydrolethalus syndrome 1 1 trial
- Hydrolethalus syndrome 2 0 trials
-
Intellectual disability, autosomal recessive 0 trials · 1 incl. sub-types
3 sub-types
-
3-M syndrome 0 trials
3 sub-types
- 3M syndrome 1 0 trials
- 3M syndrome 2 0 trials
- 3M syndrome 3 0 trials
-
ABCD syndrome 0 trials
-
2 sub-types
- Perinatal lethal hypophosphatasia 0 trials
- Severe hypophosphatasia 0 trials
-
Behr syndrome 0 trials
-
Bjornstad syndrome 0 trials
-
Bloom syndrome 0 trials
-
Bowen-Conradi syndrome 0 trials
-
CEP164-related ciliopathy 0 trials
1 sub-type
- Nephronophthisis 15 0 trials
-
CoQ-responsive OXPHOS deficiency 0 trials
-
Donnai-Barrow syndrome 0 trials
-
Donohue syndrome 0 trials
-
Fraser syndrome 0 trials
3 sub-types
- Fraser syndrome 1 0 trials
- Fraser syndrome 2 0 trials
- Fraser syndrome 3 0 trials
-
GM3 synthase deficiency 0 trials
-
Galloway-Mowat syndrome 0 trials
10 sub-types
- Galloway-Mowat syndrome 1 0 trials
- Galloway-Mowat syndrome 10 0 trials
- Galloway-Mowat syndrome 2, X-linked 0 trials
- Galloway-Mowat syndrome 3 0 trials
- Galloway-Mowat syndrome 4 0 trials
- Galloway-Mowat syndrome 5 0 trials
- Galloway-Mowat syndrome 6 0 trials
- Galloway-Mowat syndrome 7 0 trials
- Galloway-Mowat syndrome 8 0 trials
- Galloway-Mowat syndrome 9 0 trials
-
Haim-Munk syndrome 0 trials
-
IMPG1-related recessive retinopathy 0 trials
1 sub-type
- Vitelliform macular dystrophy 4 0 trials
-
Imerslund-Grasbeck syndrome type 1 0 trials
-
Imerslund-Grasbeck syndrome type 2 0 trials
-
Johanson-Blizzard syndrome 0 trials
-
Kahrizi syndrome 0 trials
-
Kilquist syndrome 0 trials
-
Laron syndrome 0 trials
-
Laurence-Moon syndrome 0 trials
-
NAD(P)HX dehydratase deficiency 0 trials
-
Naxos disease 0 trials
-
Nestor-Guillermo progeria syndrome 0 trials
-
Ochoa syndrome 0 trials
2 sub-types
- Urofacial syndrome 2 0 trials
- Urofacial syndrome type 1 0 trials
-
PHARC syndrome 0 trials
-
PROM1-related recessive retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 41 0 trials
-
Pendred syndrome 0 trials
-
Perrault syndrome 0 trials
7 sub-types
- Perrault syndrome 1 0 trials
- Perrault syndrome 2 0 trials
- Perrault syndrome 3 0 trials
- Perrault syndrome 4 0 trials
- Perrault syndrome 5 0 trials
- Perrault syndrome 6 0 trials
- Perrault syndrome 7 0 trials
-
Pierson syndrome 0 trials
-
RP1-related recessive retinopathy 0 trials
-
Roberts-SC phocomelia syndrome 0 trials
-
1 sub-type
- Congenital myasthenic syndrome 16 0 trials
-
Schwartz-Jampel syndrome 0 trials
2 sub-types
- Schwartz-Jampel syndrome type 1 0 trials
- Stüve-Wiedemann syndrome 1 0 trials
-
Schöpf-Schulz-Passarge syndrome 0 trials
-
UV-sensitive syndrome 0 trials
3 sub-types
- UV-sensitive syndrome 1 0 trials
- UV-sensitive syndrome 2 0 trials
- UV-sensitive syndrome 3 0 trials
-
Uner Tan Syndrome 0 trials
-
Vici syndrome 0 trials
-
Warburg micro syndrome 0 trials
4 sub-types
- Warburg micro syndrome 1 0 trials
- Warburg micro syndrome 2 0 trials
- Warburg micro syndrome 3 0 trials
- Warburg micro syndrome 4 0 trials
-
Wolcott-Rallison syndrome 0 trials
-
Achalasia microcephaly syndrome 0 trials
-
Acromesomelic dysplasia 2B 0 trials
-
Autosomal recessive Robinow syndrome 0 trials
-
Autosomal recessive amelia 0 trials
-
Autosomal recessive brachyolmia 0 trials
2 sub-types
- Brachyolmia type 1, Hobaek type 0 trials
- Brachyolmia type 1, toledo type 0 trials
-
Autosomal recessive cerebral atrophy 0 trials
-
4 sub-types
-
1 sub-type
-
1 sub-type
-
Autosomal recessive omodysplasia 0 trials
-
5 sub-types
-
Bifid nose, autosomal recessive 0 trials
1 sub-type
- Paramedian nasal cleft 0 trials
-
Brittle cornea syndrome 0 trials
2 sub-types
- Brittle cornea syndrome 1 0 trials
- Brittle cornea syndrome 2 0 trials
-
Congenital prothrombin deficiency 0 trials
-
3 sub-types
-
De Barsy syndrome 0 trials
2 sub-types
- ALDH18A1-related de Barsy syndrome 0 trials
- PYCR1-related de Barsy syndrome 0 trials
-
Eosinophil peroxidase deficiency 0 trials
-
Hyperlipoproteinemia, type 1D 0 trials
-
Hypermanganesemia with dystonia 2 0 trials
-
Ichthyosis linearis circumflexa 0 trials
-
Inherited threoninemia 0 trials
-
Isolated hyperchlorhidrosis 0 trials
-
Lipase deficiency, combined 0 trials
-
Microcephaly and chorioretinopathy 2 0 trials
-
Microphthalmia with limb anomalies 0 trials
-
Mulibrey nanism 0 trials
-
Osteoporosis-pseudoglioma syndrome 0 trials
-
Pseudo-TORCH syndrome 0 trials
3 sub-types
- Pseudo-TORCH syndrome 1 0 trials
- Pseudo-TORCH syndrome 2 0 trials
- Pseudo-TORCH syndrome 3 0 trials
-
Rapadilino syndrome 0 trials
Most studied deeper sub-types
Friedreich ataxia
(37)
Marinesco-Sjogren syndrome
(10)
Microcephaly 6, primary, autosomal recessive
(8)
Cerebrotendinous xanthomatosis
(6)
Cerebellar ataxia, intellectual disability, and dysequilibrium
(5)
Usher syndrome type 1B
(3)
Abetalipoproteinemia
(2)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
(2)
Charcot-Marie-Tooth disease type 4A
(2)
Recessive mitochondrial ataxia syndrome
(2)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
(2)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
(1)
COACH syndrome
(1)
Cohen syndrome
(1)
Familial isolated deficiency of vitamin E
(1)
Friedreich ataxia 1
(1)
Joubert syndrome with oculorenal defect
(1)
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
(1)
Peroxisome biogenesis disorder 1B
(1)
Posterior column ataxia-retinitis pigmentosa syndrome
(1)