Rare Disease Library

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-hyperkinetic movement-truncal ataxia syndrome

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

Intellectual disability-polydactyly-uncombable hair syndrome

Kozlowski-Krajewska syndrome

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

Skraban-Deardorff syndrome

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-strabismus syndrome

Kahrizi syndrome

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

Lambert syndrome

Branchial dysplasia-intellectual disability-inguinal hernia syndrome

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

Late-onset localized JEB-intellectual disability syndrome

Lipodystrophy-intellectual disability-deafness syndrome

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

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

Microcephaly-deafness-intellectual disability syndrome

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

Microcephaly-digital anomalies-intellectual disability syndrome

Kelly-Kirson-Wyatt syndrome

Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome

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

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Microcephaly-seizures-intellectual disability-heart disease syndrome

Microphthalmia-ankyloblepharon-intellectual disability syndrome

MCOPS4 · Syndromic microphthalmia type 4

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Moynahan syndrome

Alopecia-epilepsy-intellectual disability syndrome, Moynahan type

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

MCA/MR · Multiple congenital anomalies-intellectual disability with or without dysmorphism

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome · DHX30-related neurodevelopmental disorder

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

Northern epilepsy

Progressive epilepsy-intellectual disability syndrome, Finnish type · CLN8 disease, Northern epilepsy variant

OBSOLETE: Atrichia-intellectual disability and growth delay syndrome

OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome

OBSOLETE: Karandikar-Maria-Kamble syndrome

OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome

OBSOLETE: Mollica-Pavone-Antener syndrome

OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome

OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome

OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome

OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome

OBSOLETE: Intellectual disability-unusual facies syndrome

OBSOLETE: Morillo Cucci-Passarge syndrome

OBSOLETE: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome

OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome