Rare Disease Library

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

Digital anomalies-intellectual disability-short stature syndrome

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

Dysmorphism-short stature-deafness-difference of sex development syndrome

Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Dysmorphism-short stature-deafness-disorder of sex development syndrome

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

FHEIG syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

MN1 C-terminal truncation syndrome · MCTT

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

Hamamy syndrome

Fallot complex-intellectual disability-growth delay syndrome

Bindewald-Ulmer-Müller syndrome

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome

FOXP1 Syndrome

FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism 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

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

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

Hernández-Aguirre Negrete syndrome

Intellectual disability-epilepsy-bulbous nose syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies 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-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-dysmorphism-hypogonadism-diabetes mellitus syndrome

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

Den Hoed-De Boer-Voisin syndrome

Intellectual disability-epilepsy-extrapyramidal 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-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

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

Intellectual disability-myopathy-short stature-endocrine defect syndrome

Chudley-Rozdilsky syndrome

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

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