Rare Disease Library

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

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

MYT1L-related developmental delay-intellectual disability-obesity syndrome

MYT1L-associated neurodevelopmental disorder

OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

OBSOLETE: MECP2 duplication syndrome

OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome · OBSOLETE: Lubs-Arena syndrome

OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability

OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability

OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome

OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome

OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome

OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Levic-Stefanovic-Nikolic syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome

Pachygyria-intellectual disability-epilepsy syndrome

Kuzniecky syndrome

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

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

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

Primary hypomagnesemia-refractory seizures-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

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Seizures-intellectual disability due to hydroxylysinuria syndrome

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

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

IQSEC2-related syndromic intellectual disability

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Spastic paraplegia-epilepsy-intellectual disability syndrome

SPEMR

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

Vasquez-Hurst-Sotos syndrome

Hypogonadism-gynecomastia-X-linked intellectual disability syndrome

White-Sutton syndrome

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

Woodhouse-Sakati syndrome

Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome

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-cardiomegaly-congestive heart failure syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome

X-linked intellectual disability-craniofacioskeletal syndrome