Rare Disease Library

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-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

CTNNB1-related neurodevelopmental disorder · CTNNB1-NDD

Intellectual disability-facial dysmorphism-hand anomalies syndrome

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

PPP2R5D-related neurodevelopmental disorder · Houge-Janssens syndrome type 1

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

MOMES 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-spasticity-ectrodactyly syndrome

Jancar syndrome

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

BCL11B-related neurodevelopmental disorder

Intellectual disability-strabismus 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

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

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

Microcephaly-digital anomalies-intellectual disability syndrome

Kelly-Kirson-Wyatt syndrome

Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

Microphthalmia-ankyloblepharon-intellectual disability syndrome

MCOPS4 · Syndromic microphthalmia type 4

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

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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

Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome

Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome · Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome

Non-progressive cerebellar ataxia with intellectual disability

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

OBSOLETE: Atrichia-intellectual disability and growth delay syndrome

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

OBSOLETE: Karandikar-Maria-Kamble syndrome

OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome

OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome

OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome

OBSOLETE: Mollica-Pavone-Antener syndrome

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

OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities 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

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

BRPF1-related neurodevelopmental disorder

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Levic-Stefanovic-Nikolic syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Osteopenia-intellectual disability-sparse hair syndrome

Kaler-Garrity-Stern syndrome

Pachygyria-intellectual disability-epilepsy syndrome

Kuzniecky syndrome

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

Preaxial polydactyly-colobomata-intellectual disability syndrome

Pfeiffer-Mayer syndrome

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome