Rare Disease Library

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome

TMEM147-related neurodevelopmental disorder

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Growth delay-intellectual disability-hepatopathy syndrome

Guttmacher syndrome

Preaxial deficiency-postaxial polydactyly-hypospadias syndrome

Hair defect-photosensitivity-intellectual disability syndrome

Calderón-González-Cantu syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

Cantalamessa-Baldini-Ambrosi syndrome

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

Hypospadias-intellectual disability, Goldblatt type syndrome

Goldblatt-Wallis syndrome

Intellectual disability syndrome due to a DYRK1A point mutation

DYRK1A-related intellectual disability syndrome due to a point mutation

Intellectual disability-alacrima-achalasia syndrome

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

Pilarowski-Bjornsson syndrome

Intellectual disability-brachydactyly-Pierre Robin syndrome

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

Den Hoed-De Boer-Voisin syndrome

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

SETBP1 haploinsufficiency disorder · Intellectual disability-loss of expressive language-facial dysmorphism syndrome

Intellectual disability-facial dysmorphism-hand anomalies syndrome

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Autosomal recessive intellectual disability due to TRAPPC9 deficiency

Intellectual disability-polydactyly-uncombable hair syndrome

Kozlowski-Krajewska syndrome

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

Skraban-Deardorff syndrome

Intellectual disability-short stature-hypertelorism syndrome

Stoll-Géraudel-Chauvin syndrome

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome

BCL11B-related neurodevelopmental disorder

Intellectual disability-strabismus syndrome

KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome

Diets-Jongmans Syndrome

Lambert syndrome

Branchial dysplasia-intellectual disability-inguinal hernia syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Lipodystrophy-intellectual disability-deafness syndrome

Rajab-Spranger syndrome · Lipodystrophy-intellectual disability-hearing loss syndrome

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

Nabais Sa-de Vries type 2 syndrome

Macrocephaly-intellectual disability-autism syndrome

MAN1B1-CDG

Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency · Congenital disorder of glycosylation type II due to MAN1B1 deficiency

McKusick-Kaufman syndrome

Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Houge-Janssens syndrome type 2

Microcephaly-deafness-intellectual disability syndrome

Kawashima-Tsuji syndrome · Microcephaly-hearing loss-intellectual disability syndrome

Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome

Nabais Sa-de Vries type 1 syndrome · Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome