Rare Disease Library

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

Intellectual disability-strabismus syndrome

Intellectual disability, Wolff type

Wolff-Zimmermann syndrome

Isolated tracheoesophageal fistula

H-type tracheoesophageal fistula

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

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

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS 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

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

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

Houge-Janssens syndrome type 2

Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome

DYNC1I2-related neurodevelopmental disorder

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-phalangeal and neurological anomalies syndrome

Woods-Crouchman-Huson 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

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

Microphthalmia-ankyloblepharon-intellectual disability syndrome

MCOPS4 · Syndromic microphthalmia type 4

Mietens syndrome

Intellectual disability, Mietens-Weber type

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities 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

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: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

OBSOLETE: Intellectual disability-unusual facies syndrome

OBSOLETE: Morillo Cucci-Passarge syndrome

OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Pachygyria-intellectual disability-epilepsy syndrome

Kuzniecky syndrome

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

Pseudo-TORCH syndrome type 1

Band like calcification with simplified gyration and polymicrogyria · BLC-PMG

Rare genetic syndromic intellectual disability

Rare non-syndromic intellectual disability

Rare NSID

Rare syndromic intellectual disability

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome