Rare Disease Library

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

BRPF1-related neurodevelopmental disorder

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Chung-Jansen syndrome · DIDOD

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

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

Premature chromosome condensation with microcephaly and intellectual disability

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

Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Pseudo-TORCH syndrome type 1

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

Pseudoprogeria syndrome

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

Pterygium colli-intellectual disability-digital anomalies syndrome

Khalifa-Graham syndrome

Rare non-syndromic intellectual disability

Rare NSID

Rare syndromic intellectual disability

Richieri Costa-da Silva syndrome

Myotonia-intellectual disability-skeletal anomalies syndrome

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

Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

IQSEC2-related syndromic intellectual disability

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

Tall stature-intellectual disability-renal anomalies syndrome

Thauvin-Robinet-Faivre syndrome

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Ulna hypoplasia-intellectual disability syndrome

Urban-Rogers-Meyer syndrome

Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

X-linked intellectual disability-acromegaly-hyperactivity syndrome

X-linked intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

X-linked intellectual disability-plagiocephaly syndrome

Hyde Forster-McCarthy-Berry syndrome

X-linked intellectual disability, Cilliers type

X-linked intellectual disability-microcephaly-testicular failure syndrome

X-linked intellectual disability, Najm type

MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

ZTTK syndrome

Zhu-Tokita-Takenouchi-Kim syndrome · Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome