Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Part of

Sub-types of Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

• Prader-Willi syndrome 32 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
• Noonan syndrome 22 trials · 25 incl. sub-types
  14 sub-types

  • Noonan syndrome 3 2 trials
  • Noonan syndrome 5 1 trial
  • Noonan syndrome 1 0 trials
  • Noonan syndrome 10 0 trials
  • Noonan syndrome 11 0 trials
  • Noonan syndrome 13 0 trials
  • Noonan syndrome 14 0 trials
  • Noonan syndrome 2 0 trials
  • Noonan syndrome 4 0 trials
  • Noonan syndrome 6 0 trials
  • Noonan syndrome 7 0 trials
  • Noonan syndrome 8 0 trials
  • Noonan syndrome 9 0 trials
  • Noonan syndrome 12 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
• Silver-Russell syndrome 7 trials
  11 sub-types

  • Russell-silver syndrome, X-linked 0 trials
  • Silver-Russell syndrome 1 0 trials
  • Silver-Russell syndrome 3 0 trials
  • Silver-Russell syndrome 5 0 trials
  • Silver-Russell syndrome due to 11p15 microduplication 0 trials
  • Silver-Russell syndrome due to 7p11.2p13 microduplication 0 trials
  • Silver-Russell syndrome due to an imprinting defect of 11p15 0 trials
  • Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 0 trials
  • Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 0 trials
  • Silver-russell syndrome 2 0 trials
  • Silver-russell syndrome 4 0 trials
• CHARGE syndrome 4 trials
  1 sub-type

  • CHD7-related CHARGE syndrome 0 trials
• Anophthalmia/microphthalmia-esophageal atresia syndrome 4 trials
• Antley-Bixler syndrome 2 trials
  2 sub-types

  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0 trials
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 0 trials
• Mobius syndrome 2 trials
  1 sub-type

  • Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 0 trials
• PHACE syndrome 2 trials
• Pallister-Hall syndrome 0 trials · 2 incl. sub-types
  1 sub-type

  • Congenital hypothalamic hamartoma syndrome 2 trials
• 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
• Sotos syndrome 1 trial
• Occipital horn syndrome 1 trial
• Split hand-foot malformation 3 1 trial
• 4q25 proximal deletion syndrome 0 trials
• Bosley-Salih-Alorainy syndrome 0 trials
• Brachymorphism-onychodysplasia-dysphalangism syndrome 0 trials
• Carpenter syndrome 0 trials
  2 sub-types

  • MEGF8-related Carpenter syndrome 0 trials
  • RAB23-related Carpenter syndrome 0 trials
• Char syndrome 0 trials
• Donnai-Barrow syndrome 0 trials
• Goodman syndrome 0 trials
• Hennekam-Beemer syndrome 0 trials
• Hypoglossia-hypodactyly syndrome 0 trials
• Kallmann syndrome-heart disease syndrome 0 trials
• King-Denborough syndrome 0 trials
• Malan overgrowth syndrome 0 trials
• Marshall-Smith syndrome 0 trials
• Mietens syndrome 0 trials
• Noonan syndrome-like disorder with loose anagen hair 0 trials
  2 sub-types

  • Noonan syndrome-like disorder with loose anagen hair 1 0 trials
  • Noonan syndrome-like disorder with loose anagen hair 2 0 trials
• Potocki-Shaffer syndrome 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
• Robinow syndrome 0 trials
  3 sub-types

  • Autosomal dominant Robinow syndrome 0 trials Sub-types →
  • Autosomal recessive Robinow syndrome 0 trials
  • Robinow syndrome, autosomal recessive 2 0 trials
• SHORT syndrome 0 trials
• Schinzel-Giedion syndrome 0 trials
• TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
• Toriello-Carey syndrome 0 trials
• Weiss-Kruszka syndrome 0 trials
• Ablepharon macrostomia syndrome 0 trials
• Acromegaloid facial appearance syndrome 0 trials
• Arachnodactyly-intellectual disability-dysmorphism syndrome 0 trials
• Autosomal dominant popliteal pterygium 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
• Branchiogenic deafness syndrome 0 trials
• Campomelia, Cumming type 0 trials
• Campomelic dysplasia 0 trials
• Cerebrocostomandibular syndrome 0 trials
• Chromosome 1p32-p31 deletion syndrome 0 trials
• Combined immunodeficiency with faciooculoskeletal anomalies 0 trials
• Contractures-developmental delay-Pierre Robin syndrome 0 trials
• Dysmorphism-conductive hearing loss-heart defect syndrome 0 trials
• Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome 0 trials
• Hypertrichotic osteochondrodysplasia Cantu type 0 trials
• Hypomandibular faciocranial dysostosis 0 trials
• Isotretinoin-like syndrome 0 trials
  1 sub-type

  • Isotretinoin syndrome 0 trials
• Lethal faciocardiomelic dysplasia 0 trials
• Microgastria-limb reduction defect syndrome 0 trials
• Microphthalmia with limb anomalies 0 trials
• Mosaic SMO syndrome 0 trials
  2 sub-types

  • Curry-Jones syndrome 0 trials
  • Happle-Tinschert syndrome 0 trials
• Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 0 trials
• Oculodentodigital dysplasia 0 trials
  1 sub-type

  • Oculodentodigital dysplasia, autosomal recessive 0 trials
• Oculotrichoanal syndrome 0 trials
• Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome 0 trials
• Polyvalvular heart disease syndrome 0 trials
  2 sub-types

  • 6q25.1 microdeletion syndrome 0 trials
  • Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation 0 trials
• Restrictive dermopathy 1 0 trials
• Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0 trials
• Short stature-heart defect-craniofacial anomalies syndrome 0 trials
• Short stature-wormian bones-dextrocardia syndrome 0 trials
• Symptomatic form of Coffin-Lowry syndrome in female carriers 0 trials
• Ulnar-mammary syndrome 0 trials