Rare Disease Library

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Congenital disorder of glycosylation due to PIGG deficiency · PIGG-CDG

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Fallot complex-intellectual disability-growth delay syndrome

Bindewald-Ulmer-Müller syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Genetic MCA · Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)

Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism

Genitopatellar syndrome

Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome

Hengel-Maroofian-Schols syndrome · BCAS3-related neurodevelopmental disorder

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

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

Hair defect-photosensitivity-intellectual disability syndrome

Calderón-González-Cantu syndrome

Hennekam syndrome

Lymphedema-lymphangiectasia-intellectual disability syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Intellectual disability-alacrima-achalasia syndrome

Intellectual disability-brachydactyly-Pierre Robin syndrome

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

Den Hoed-De Boer-Voisin syndrome

Intellectual disability-epilepsy-extrapyramidal syndrome

Intellectual disability-facial dysmorphism-hand anomalies syndrome

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

Intellectual disability-myopathy-short stature-endocrine defect syndrome

Chudley-Rozdilsky syndrome

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Intellectual disability-polydactyly-uncombable hair syndrome

Kozlowski-Krajewska syndrome

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

Skraban-Deardorff syndrome

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Intellectual disability-seizures-macrocephaly-obesity syndrome

Der(8)t(8;12)

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

Kahrizi syndrome

Intellectual disability, Kahrizi type · Intellectual disability-cataract-coloboma-kyphosis syndrome

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

KAT6A syndrome · Arboleda-Tham syndrome

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

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

Diets-Jongmans Syndrome

Keppen-Lubinsky syndrome

Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

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

Nabais Sa-de Vries type 2 syndrome

Macrocephaly-intellectual disability-autism syndrome

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Sohval-Soffer syndrome

MAN1B1-CDG

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

Marfanoid habitus-autosomal recessive intellectual disability syndrome

Fragoso-Cantú syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

Microcephaly-digital anomalies-intellectual disability syndrome

Kelly-Kirson-Wyatt syndrome

Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome

Woods-Crouchman-Huson syndrome

Microcephaly-seizures-intellectual disability-heart disease syndrome