Rare Disease Library

NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome

X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

HSD10 disease, atypical type

HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10

KDM5C-related syndromic X-linked intellectual disability

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome

SLC4A10-related neurodevelopmental disorder

Proximal Xq28 duplication syndrome

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

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

TELO2-related intellectual disability-neurodevelopmental disorder

You-Hoover-Fong syndrome

X-linked intellectual disability-hypotonia-movement disorder syndrome

X-linked intellectual disability-hypotonic face syndrome

X-linked intellectual disability, Abidi type

X-linked intellectual disability, Golabi-Ito-Hall type

X-linked intellectual disability, Gu type

MRX35

X-linked intellectual disability, Hedera type

MRXSH

X-linked intellectual disability, Nascimento type

X-linked intellectual disability-nail dystrophy-seizures syndrome

X-linked intellectual disability, Seemanova type

X-linked intellectual disability, Shashi type

Syndromic X-linked intellectual disability type 11

X-linked intellectual disability, Siderius type

X-linked intellectual disability, Snyder type

Snyder-Robinson syndrome

X-linked intellectual disability, Stevenson type

X-linked intellectual disability, Stoll type

X-linked intellectual disability, Turner type

X-linked intellectual disability, Vitale type

X-linked non-syndromic intellectual disability