Congenital nervous system disorder

Part of

Sub-types of Congenital nervous system disorder

• Spina bifida 44 trials · 59 incl. sub-types
  2 sub-types

  • Isolated spina bifida 1 trial · 28 incl. sub-types Sub-types →
  • Spina bifida occulta 2 trials Sub-types →
• Combined pituitary hormone deficiencies, genetic form 1 trial · 42 incl. sub-types
  9 sub-types

  • Isolated congenital growth hormone deficiency 38 trials Sub-types →
  • Panhypopituitarism 2 trials Sub-types →
  • Congenital isolated adrenocorticotropic hormone deficiency 1 trial
  • Pituitary hormone deficiency, combined, 1 1 trial
  • Septooptic dysplasia 1 trial Sub-types →
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities 0 trials
  • Pituitary hormone deficiency, combined or isolated, 8 0 trials
  • Pituitary hormone deficiency, combined, 6 0 trials
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 trials
• Prader-Willi syndrome 31 trials
  5 sub-types

  • Prader-Willi syndrome due to imprinting mutation 0 trials
  • Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 0 trials
  • Prader-Willi syndrome due to paternal 15q11q13 deletion 0 trials Sub-types →
  • Prader-Willi syndrome due to translocation 0 trials
  • Schaaf-Yang syndrome 0 trials
• 22q11.2 deletion syndrome 7 trials · 13 incl. sub-types
  4 sub-types

  • DiGeorge syndrome 11 trials
  • Velocardiofacial syndrome 4 trials
  • Chromosome 22q11.2 deletion syndrome, distal 0 trials
  • Congenital unilateral hypoplasia of depressor anguli oris 0 trials
• Leber congenital amaurosis 10 trials · 12 incl. sub-types
  21 sub-types

  • Leber congenital amaurosis 10 2 trials
  • Leber congenital amaurosis 2 2 trials
  • Leber congenital amaurosis 5 2 trials
  • Leber congenital amaurosis 1 1 trial
  • Leber congenital amaurosis 11 0 trials
  • Leber congenital amaurosis 12 0 trials
  • Leber congenital amaurosis 13 0 trials
  • Leber congenital amaurosis 14 0 trials
  • Leber congenital amaurosis 15 0 trials
  • Leber congenital amaurosis 16 0 trials
  • Leber congenital amaurosis 17 0 trials
  • Leber congenital amaurosis 18 0 trials
  • Leber congenital amaurosis 19 0 trials
  • Leber congenital amaurosis 3 0 trials
  • Leber congenital amaurosis 4 0 trials
  • Leber congenital amaurosis 6 0 trials
  • Leber congenital amaurosis 7 0 trials
  • Leber congenital amaurosis 8 0 trials
  • Leber congenital amaurosis 9 0 trials
  • Leber congenital amaurosis with early-onset deafness 0 trials
  • Retinal aplasia 0 trials
• Chediak-Higashi syndrome 9 trials
• Congenital laryngeal palsy 9 trials
• Congenital myotonic dystrophy 9 trials
• Congenital muscular dystrophy 1 trial · 9 incl. sub-types
  23 sub-types

  • Congenital merosin-deficient muscular dystrophy 1A 3 trials
  • Congenital muscular dystrophy due to LMNA mutation 2 trials
  • Congenital myasthenic syndrome 10 2 trials
  • Muscular dystrophy-dystroglycanopathy 0 trials · 1 incl. sub-types Sub-types →
  • Rigid spine syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Bethlem myopathy 0 trials Sub-types →
  • SNUPN-related muscular dystrophy with or without multi-system involvement 0 trials Sub-types →
  • Ullrich congenital muscular dystrophy 0 trials Sub-types →
  • Arthrogryposis due to muscular dystrophy 0 trials
  • Autosomal recessive myogenic arthrogryposis multiplex congenita 0 trials
  • Collagen 6-related congenital muscular dystrophy 0 trials Sub-types →
  • Congenital muscular dystrophy 1B 0 trials
  • Congenital muscular dystrophy caused by variation in POMGNT2 0 trials Sub-types →
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency 0 trials
  • Congenital muscular dystrophy with cataracts and intellectual disability 0 trials
  • Congenital muscular dystrophy with hyperlaxity 0 trials
  • Congenital muscular dystrophy without intellectual disability 0 trials
  • Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome 0 trials
  • Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome 0 trials
  • Congenital myopathy, Paradas type 0 trials
  • Megaconial type congenital muscular dystrophy 0 trials
  • Muscle-eye-brain disease 0 trials Sub-types →
  • Muscular dystrophy, congenital, with rapid progression 0 trials
• Congenital vitreoretinal dysplasia 0 trials · 9 incl. sub-types
  9 sub-types

  • Trisomy 13 4 trials Sub-types →
  • Incontinentia pigmenti 3 trials
  • Coats disease 2 trials
  • Coats plus syndrome 0 trials Sub-types →
  • Norrie disease 0 trials
  • Osteoporosis-pseudoglioma syndrome 0 trials
  • Persistent hyperplastic primary vitreous 0 trials Sub-types →
  • Retinal capillary malformation 0 trials
  • Spondylo-ocular syndrome 0 trials
• Progressive external ophthalmoplegia 4 trials · 8 incl. sub-types
  3 sub-types

  • Kearns-Sayre syndrome 5 trials
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions 0 trials · 2 incl. sub-types Sub-types →
  • Autosomal recessive progressive external ophthalmoplegia 0 trials Sub-types →
• Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 0 trials · 8 incl. sub-types
  9 sub-types

  • Qualitative or quantitative defects of FKRP 0 trials · 8 incl. sub-types Sub-types →
  • Myopathy caused by variation in FKTN 1 trial · 2 incl. sub-types Sub-types →
  • Myopathy caused by variation in CRPPA 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy caused by variation in GMPPB 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy caused by variation in POMT1 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy caused by variation in POMT2 0 trials · 1 incl. sub-types Sub-types →
  • Qualitative or quantitative defects of protein O-mannosyltransferase 1 0 trials · 1 incl. sub-types Sub-types →
  • Qualitative or quantitative defects of protein O-mannosyltransferase 2 0 trials · 1 incl. sub-types Sub-types →
  • Limb-girdle muscular dystrophy due to POMK deficiency 0 trials
• RYR1-related myopathy 5 trials · 6 incl. sub-types
  5 sub-types

  • Central core myopathy 2 trials
  • King-Denborough syndrome 0 trials
  • Congenital multicore myopathy with external ophthalmoplegia 0 trials
  • Congenital myopathy with myasthenic-like onset 0 trials
  • Rhabdomyolysis-myalgia syndrome 0 trials
• MERRF syndrome 5 trials
• Smith-Magenis syndrome 5 trials
• Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 5 trials
• Congenital nystagmus 4 trials · 5 incl. sub-types
  10 sub-types

  • Spinocerebellar ataxia 27A 1 trial
  • Nystagmus 1, congenital, X-linked 0 trials
  • Nystagmus 2, congenital, autosomal dominant 0 trials
  • Nystagmus 3, congenital, autosomal dominant 0 trials
  • Nystagmus 5, congenital, X-linked 0 trials
  • Nystagmus 6, congenital, X-linked 0 trials
  • Nystagmus 7, congenital, autosomal dominant 0 trials
  • Nystagmus, congenital, autosomal recessive 0 trials
  • Nystagmus, hereditary vertical 0 trials
  • Nystagmus, myoclonic 0 trials
• Corpus callosum, agenesis of 4 trials
  2 sub-types

  • Kozlowski Ouvrier syndrome 0 trials
  • Calloso-genital dysplasia 0 trials
• Mitochondrial neurogastrointestinal encephalomyopathy 4 trials
  4 sub-types

  • Mitochondrial DNA depletion syndrome 1 0 trials
  • Mitochondrial DNA depletion syndrome 20 (mngie type) 0 trials
  • Mitochondrial DNA depletion syndrome 4b 0 trials
  • Mitochondrial DNA depletion syndrome 8a 0 trials
• Severe intellectual disability-progressive spastic diplegia syndrome 4 trials
• TTN-related myopathy 2 trials · 4 incl. sub-types
  2 sub-types

  • Autosomal recessive titinopathy 0 trials · 2 incl. sub-types Sub-types →
  • Autosomal dominant titinopathy 0 trials Sub-types →
• Rubinstein-Taybi syndrome 3 trials
  3 sub-types

  • Rubinstein-Taybi syndrome due to CREBBP mutations 0 trials
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 trials
  • Chromosome 16p13.3 deletion syndrome 0 trials Sub-types →
• Cerebral cavernous malformation 3 trials
  1 sub-type

  • Famililal cerebral cavernous malformations 1 trial Sub-types →
• Congenital stationary night blindness autosomal dominant 1 3 trials
• Familial congenital mirror movements 3 trials
  4 sub-types

  • Mirror movements 1 and/or agenesis of the corpus callosum 0 trials Sub-types →
  • Mirror movements 2 0 trials
  • Mirror movements 3 0 trials
  • Mirror movements 4 0 trials
• Syndromic X-linked intellectual disability Lubs type 3 trials
  1 sub-type

  • Chromosome Xq28 duplication syndrome 0 trials Sub-types →
• TPM2-related myopathy 1 trial · 3 incl. sub-types
  2 sub-types

  • Central core myopathy 2 trials
  • Congenital myopathy 23 0 trials
• Congenital hydrocephalus 1 trial · 3 incl. sub-types
  8 sub-types

  • X-linked hydrocephalus with stenosis of the aqueduct of Sylvius 1 trial
  • Hydrocephalus, nonsyndromic, autosomal recessive 1 1 trial
  • Autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius 0 trials
  • Congenital communicating hydrocephalus 0 trials
  • Congenital non-communicating hydrocephalus 0 trials
  • Hydrocephalus, congenital, 3, with brain anomalies 0 trials
  • Hydrocephalus, nonsyndromic, autosomal recessive 2 0 trials
  • Hydrocephalus-blue sclerae-nephropathy syndrome 0 trials
• FOXG1 disorder 2 trials
• KBG syndrome 2 trials
• Mobius syndrome 2 trials
  1 sub-type

  • Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 0 trials
• Mowat-Wilson syndrome 2 trials
  2 sub-types

  • Mowat-Wilson syndrome due to a ZEB2 point mutation 0 trials
  • Mowat-Wilson syndrome due to monosomy 2q22 0 trials
• PHACE syndrome 2 trials
• Congenital toxoplasmosis 2 trials
• Isolated hereditary congenital facial paralysis 2 trials
  1 sub-type

  • Facial paresis, hereditary congenital, 1 0 trials
• Meningocele 2 trials
  1 sub-type

  • Meningoencephalocele 0 trials
• Childhood-onset nemaline myopathy 1 trial · 2 incl. sub-types
  6 sub-types

  • Nemaline myopathy 6 1 trial
  • Congenital myopathy 23 0 trials
  • Congenital myopathy 2a, typical, autosomal dominant 0 trials
  • Congenital myopathy 4B, autosomal recessive 0 trials
  • Nemaline myopathy 2 0 trials
  • Nemaline myopathy 9 0 trials
• Postsynaptic congenital myasthenic syndrome 0 trials · 2 incl. sub-types
  14 sub-types

  • Congenital myasthenic syndrome 10 2 trials
  • Congenital myasthenic syndrome 17 1 trial
  • Congenital myasthenic syndrome 8 1 trial
  • Congenital myasthenic syndrome 9 1 trial
  • Congenital myasthenic syndrome 11 0 trials
  • Congenital myasthenic syndrome 16 0 trials
  • Congenital myasthenic syndrome 19 0 trials
  • Congenital myasthenic syndrome 1A 0 trials Sub-types →
  • Congenital myasthenic syndrome 2A 0 trials
  • Congenital myasthenic syndrome 2C 0 trials
  • Congenital myasthenic syndrome 3A 0 trials
  • Congenital myasthenic syndrome 3B 0 trials
  • Congenital myasthenic syndrome 3C 0 trials
  • Congenital myasthenic syndrome 4 0 trials Sub-types →
• AICA-ribosiduria 1 trial
• Bohring-Opitz syndrome 1 trial
• Cohen syndrome 1 trial
• Freeman-Sheldon syndrome 1 trial
  1 sub-type

  • Whistling face syndrome, recessive form 0 trials
• Schuurs-Hoeijmakers syndrome 1 trial
• TPM3-related myopathy 1 trial
  3 sub-types

  • Cap myopathy 0 trials
  • Congenital myopathy 4A, autosomal dominant 0 trials
  • Congenital myopathy 4B, autosomal recessive 0 trials
• Anencephaly 1 trial
  4 sub-types

  • Anencephaly 1 0 trials
  • Anencephaly 2 0 trials
  • Hydranencephaly 0 trials Sub-types →
  • Isolated anencephaly 0 trials
• Autism spectrum disorder due to AUTS2 deficiency 1 trial
• Autosomal recessive limb-girdle muscular dystrophy type 2R1 1 trial
• Autosomal recessive limb-girdle muscular dystrophy type 2Y 1 trial
• Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 trial
• Chromosome 15q13.3 microdeletion syndrome 1 trial
• Congenital contractural arachnodactyly 1 trial
• Congenital stationary night blindness autosomal dominant 2 1 trial
• Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 trial
• Isolated cerebellar hypoplasia/agenesis 1 trial
• Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 trial
• Polymicrogyria 1 trial
  2 sub-types

  • Bilateral polymicrogyria 0 trials Sub-types →
  • Unilateral polymicrogyria 0 trials Sub-types →
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 trial
  1 sub-type

  • Spinocerebellar ataxia with epilepsy 1 trial
• Syndromic X-linked intellectual disability 5 1 trial
• Cephalocele 0 trials · 1 incl. sub-types
  2 sub-types

  • Isolated encephalocele 1 trial Sub-types →
  • Meningoencephalocele 0 trials
• Myopathy caused by variation in POMGNT1 0 trials · 1 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2O 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 0 trials
• Neuropathy, congenital hypomelinating 0 trials · 1 incl. sub-types
  3 sub-types

  • Charcot-Marie-Tooth disease type 4E 1 trial
  • Neuropathy, congenital hypomyelinating, 2 0 trials
  • Neuropathy, congenital hypomyelinating, 3 0 trials
• Severe congenital nemaline myopathy 0 trials · 1 incl. sub-types
  5 sub-types

  • Nemaline myopathy 8 1 trial
  • Congenital myopathy 2a, typical, autosomal dominant 0 trials
  • Nemaline myopathy 10 0 trials
  • Nemaline myopathy 2 0 trials
  • Nemaline myopathy 9 0 trials
• 3q27.3 microdeletion syndrome 0 trials
• 7p22.1 microduplication syndrome 0 trials
• 9q31.1q31.3 microdeletion syndrome 0 trials
• 9q33.3q34.11 microdeletion syndrome 0 trials
• ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 trials
• Aase-Smith syndrome 0 trials
• Al Gazali Khidr Prem Chandran syndrome 0 trials
• B4GALT1-congenital disorder of glycosylation 0 trials
• Bailey-Bloch congenital myopathy 0 trials
• Bardet-Biedl syndrome 11 0 trials
• CTCF-related neurodevelopmental disorder 0 trials
• DYRK1A-related intellectual disability syndrome 0 trials
  2 sub-types

  • DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 0 trials
  • Intellectual disability syndrome due to a DYRK1A point mutation 0 trials
• EEM syndrome 0 trials
• Houge-Janssens syndrome 1 0 trials
• Johanson-Blizzard syndrome 0 trials
• MYH7-related skeletal myopathy 0 trials
• Myhre syndrome 0 trials
• PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 trials
• Pierpont syndrome 0 trials
• Pitt-Hopkins-like syndrome 2 0 trials
• Prader-Willi-like syndrome 0 trials
  3 sub-types

  • 6q16 deletion syndrome 0 trials
  • BDV syndrome 0 trials
  • SIM1-related Prader-Willi-like syndrome 0 trials
• Ritscher-Schinzel syndrome 0 trials
  4 sub-types

  • Ritscher-Schinzel syndrome 1 0 trials
  • Ritscher-Schinzel syndrome 2 0 trials
  • Ritscher-Schinzel syndrome 3 0 trials
  • Ritscher-Schinzel syndrome 4 0 trials
• SIN3A-related intellectual disability syndrome 0 trials
  1 sub-type

  • SIN3A-related intellectual disability syndrome due to a point mutation 0 trials
• SLC39A8-CDG 0 trials
• Schinzel-Giedion syndrome 0 trials
• TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
• Wieacker-Wolff syndrome 0 trials
• X-linked adrenal hypoplasia congenita 0 trials
  1 sub-type

  • Adrenal hypoplasia, cytomegalic type 0 trials
• X-linked congenital stationary night blindness 0 trials
  2 sub-types

  • Congenital stationary night blindness 1A 0 trials
  • Congenital stationary night blindness 2A 0 trials
• X-linked intellectual disability with marfanoid habitus 0 trials
• X-linked intellectual disability, Cabezas type 0 trials
• X-linked intellectual disability, Pai type 0 trials
• X-linked intellectual disability, Stevenson type 0 trials
• X-linked intellectual disability, Stoll type 0 trials
• X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 0 trials
• X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 0 trials
• X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 0 trials
• X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 0 trials
• X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 0 trials
• X-linked intellectual disability-plagiocephaly syndrome 0 trials
• X-linked intellectual disability-short stature-overweight syndrome 0 trials
• X-linked recessive mitochondrial myopathy 0 trials
• Adult-onset nemaline myopathy 0 trials
• Alpha-actinopathy 0 trials
  4 sub-types

  • Cap myopathy 0 trials
  • Congenital myopathy 2a, typical, autosomal dominant 0 trials
  • Progressive scapulohumeroperoneal distal myopathy 0 trials
  • Zebra body myopathy 0 trials
• Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 trials
• Autosomal dominant primary microcephaly 0 trials
  3 sub-types

  • Microcephaly 18, primary, autosomal dominant 0 trials
  • Microcephaly 26, primary, autosomal dominant 0 trials
  • Microcephaly 27, primary, autosomal dominant 0 trials
• Autosomal recessive spinocerebellar ataxia 20 0 trials
• Blepharophimosis - intellectual disability syndrome, MKB type 0 trials
• Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 trials
• Cerebellar-facial-dental syndrome 0 trials
• Cone-rod synaptic disorder, congenital nonprogressive 0 trials
• Congenital abducens nerve palsy 0 trials
• Congenital achiasma 0 trials
• Congenital axonal neuropathy with encephalopathy 0 trials
• Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 trials
• Congenital epulis 0 trials
• Congenital fibrosis of extraocular muscles type 1 0 trials
• Congenital insensitivity to pain with hyperhidrosis 0 trials
• Congenital insensitivity to pain with severe intellectual disability 0 trials
• Congenital insensitivity to pain-hypohidrosis syndrome 0 trials
• Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
• Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 trials
• Congenital myasthenic syndrome 15 0 trials
• Congenital myasthenic syndrome 18 0 trials
• Congenital myasthenic syndrome 6 0 trials
• Congenital myasthenic syndrome with tubular aggregates 0 trials
  3 sub-types

  • Congenital myasthenic syndrome 12 0 trials
  • Congenital myasthenic syndrome 13 0 trials
  • Congenital myasthenic syndrome 14 0 trials
• Congenital myopathy 7A, myosin storage, autosomal dominant 0 trials
• Congenital neuronal ceroid lipofuscinosis 10 0 trials
• Congenital oculomotor nerve palsy 0 trials
• Congenital or early infantile CACH syndrome 0 trials
• Congenital retinal arteriovenous communication 0 trials
• Congenital stationary night blindness 1B 0 trials
• Congenital stationary night blindness 1D 0 trials
• Congenital stationary night blindness 1G 0 trials
• Congenital stationary night blindness autosomal dominant 3 0 trials
• Congenital trigeminal anesthesia 0 trials
• Craniorachischisis 0 trials
• Developmental and epileptic encephalopathy, 15 0 trials
• Developmental and epileptic encephalopathy, 18 0 trials
• Developmental and epileptic encephalopathy, 23 0 trials
• Developmental and epileptic encephalopathy, 36 0 trials
• Developmental and epileptic encephalopathy, 50 0 trials
• Developmental and epileptic encephalopathy, 73 0 trials
• Developmental and epileptic encephalopathy, 77 0 trials
• Developmental malformations-deafness-dystonia syndrome 0 trials
• Diastematomyelia 0 trials
• Distal arthrogryposis Moore weaver type 0 trials
• Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 trials
• Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 0 trials
• Familial congenital palsy of trochlear nerve 0 trials
• Fibrosis of extraocular muscles, congenital, 2 0 trials
• Fibrosis of extraocular muscles, congenital, 3c 0 trials
• Fibrosis of extraocular muscles, congenital, 5 0 trials
• Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 0 trials
• Holoprosencephaly 0 trials
  17 sub-types

  • Alobar holoprosencephaly 0 trials Sub-types →
  • Chromosome 1q41-q42 deletion syndrome 0 trials
  • Holoprosencephaly 1 0 trials
  • Holoprosencephaly 10 0 trials
  • Holoprosencephaly 11 0 trials
  • Holoprosencephaly 12 with or without pancreatic agenesis 0 trials
  • Holoprosencephaly 13, X-linked 0 trials
  • Holoprosencephaly 14 0 trials
  • Holoprosencephaly 2 0 trials
  • Holoprosencephaly 3 0 trials Sub-types →
  • Holoprosencephaly 4 0 trials
  • Holoprosencephaly 6 0 trials
  • Holoprosencephaly 7 0 trials
  • Holoprosencephaly 8 0 trials
  • Lobar holoprosencephaly 0 trials Sub-types →
  • Microform holoprosencephaly 0 trials Sub-types →
  • Semilobar holoprosencephaly 0 trials
• Holoprosencephaly-hypokinesia-congenital contractures syndrome 0 trials
• Hyaline body myopathy 0 trials
• Hypomyelinating leukodystrophy 10 0 trials
• Hypotonia, infantile, with psychomotor retardation and characteristic facies 0 trials
  3 sub-types

  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 trials
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 trials
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 trials
• Infantile-onset X-linked spinal muscular atrophy 0 trials
• Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 trials
• Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 trials
• Intellectual disability, Buenos-Aires type 0 trials
• Intellectual disability, Wolff type 0 trials
• Intellectual disability, X-linked, syndromic 33 0 trials
• Intellectual disability, autosomal dominant 47 0 trials
• Intellectual disability, autosomal dominant 48 0 trials
• Intellectual disability, autosomal recessive 12 0 trials
• Intellectual disability, autosomal recessive 53 0 trials
• Intellectual disability-sparse hair-brachydactyly syndrome 0 trials
• Intermediate nemaline myopathy 0 trials
  4 sub-types

  • Congenital myopathy 2a, typical, autosomal dominant 0 trials
  • Congenital myopathy 4B, autosomal recessive 0 trials
  • Nemaline myopathy 2 0 trials
  • Nemaline myopathy 9 0 trials
• Isolated exencephaly 0 trials
• Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 trials
• Lissencephaly spectrum disorders 0 trials
  14 sub-types

  • Baraitser-Winter cerebrofrontofacial syndrome 0 trials Sub-types →
  • Warburg micro syndrome 0 trials Sub-types →
  • X-linked lissencephaly with abnormal genitalia 0 trials
  • Classic lissencephaly 0 trials Sub-types →
  • Cobblestone lissencephaly 0 trials Sub-types →
  • Craniotelencephalic dysplasia 0 trials
  • Lissencephaly 10 0 trials
  • Lissencephaly 7 with cerebellar hypoplasia 0 trials
  • Lissencephaly 8 0 trials
  • Lissencephaly spectrum disorder with complex brainstem malformation 0 trials Sub-types →
  • Lissencephaly type 3 0 trials Sub-types →
  • Lissencephaly with cerebellar hypoplasia 0 trials Sub-types →
  • Massa casaer ceulemans syndrome 0 trials
  • Microlissencephaly 0 trials Sub-types →
• Macrocephaly-short stature-paraplegia syndrome 0 trials
• Macrocephaly-spastic paraplegia-dysmorphism syndrome 0 trials
• Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 trials
• Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 0 trials
• Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
• Multiple pterygium-malignant hyperthermia syndrome 0 trials
• Myasthenia, congenital, refractory to acetylcholinesterase inhibitors 0 trials
• Myasthenic syndrome, congenital, 22 0 trials
• Myasthenic syndrome, congenital, 23, presynaptic 0 trials
• Myasthenic syndrome, congenital, 24, presynaptic 0 trials
• Myasthenic syndrome, congenital, 25, presynaptic 0 trials
• Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0 trials
• Myofibrillar myopathy 1 0 trials
• Myofibrillar myopathy 3 0 trials
• Myofibrillar myopathy 4 0 trials
• Myofibrillar myopathy 5 0 trials
• Myofibrillar myopathy 7 0 trials
  1 sub-type

  • Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome 0 trials
• Myopathy, myofibrillar, 13, with rimmed vacuoles 0 trials
• Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 trials
• Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 0 trials
  2 sub-types

  • Au-Kline syndrome 0 trials
  • Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion 0 trials
• Night blindness, congenital stationary, type1i 0 trials
• Periventricular nodular heterotopia 0 trials
  8 sub-types

  • Chromosome 5Q14.3 deletion syndrome, distal 0 trials
  • Heterotopia, periventricular, X-linked dominant 0 trials
  • Heterotopia, periventricular, associated with chromosome 5P anomalies 0 trials
  • Periventricular heterotopia with microcephaly, autosomal recessive 0 trials
  • Periventricular nodular heterotopia 6 0 trials
  • Periventricular nodular heterotopia 7 0 trials
  • Periventricular nodular heterotopia 8 0 trials
  • Periventricular nodular heterotopia 9 0 trials
• Prenatal-onset spinal muscular atrophy with congenital bone fractures 0 trials
  2 sub-types

  • Spinal muscular atrophy with congenital bone fractures 1 0 trials
  • Spinal muscular atrophy with congenital bone fractures 2 0 trials
• Progressive myoclonic epilepsy type 3 0 trials
• Radioulnar synostosis-developmental delay-hypotonia syndrome 0 trials
• Schizencephaly 0 trials
  2 sub-types

  • Acquired schizencephaly 0 trials
  • Familial schizencephaly 0 trials
• Segmental spinal dysgenesis 0 trials
• Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 trials
• Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 trials
• Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome 0 trials
• Short stature-brachydactyly-obesity-global developmental delay syndrome 0 trials
• Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 trials
• Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis 0 trials
• Subcortical band heterotopia 0 trials
  2 sub-types

  • Band heterotopia of brain 0 trials
  • Lissencephaly type 1 due to doublecortin gene mutation 0 trials
• Syndromic X-linked intellectual disability 34 0 trials
• Syndromic X-linked intellectual disability 7 0 trials
• Syndromic X-linked intellectual disability Abidi type 0 trials
• Syndromic X-linked intellectual disability Claes-Jensen type 0 trials
• Syndromic X-linked intellectual disability Shashi type 0 trials
• Syndromic X-linked intellectual disability Siderius type 0 trials
• Typical nemaline myopathy 0 trials
  6 sub-types

  • Congenital myopathy 23 0 trials
  • Congenital myopathy 2a, typical, autosomal dominant 0 trials
  • Nemaline myopathy 10 0 trials
  • Nemaline myopathy 2 0 trials
  • Nemaline myopathy 7 0 trials
  • Nemaline myopathy 9 0 trials