Rare Disease Library

X-linked intellectual disability-spastic quadriparesis syndrome

X-linked intellectual disability, Abidi type

X-linked intellectual disability, Armfield type

Armfield syndrome

X-linked intellectual disability, Brooks type

X-linked intellectual disability, Cabezas type

Cabezas syndrome

X-linked intellectual disability, Cantagrel type

X-linked intellectual disability, Cilliers type

X-linked intellectual disability-microcephaly-testicular failure syndrome

X-linked intellectual disability, Fichera 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, Miles-Carpenter type

X-linked intellectual disability, Najm type

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

X-linked intellectual disability, Nascimento type

X-linked intellectual disability-nail dystrophy-seizures syndrome

X-linked intellectual disability, Pai type

X-linked intellectual disability, Porteous type

X-linked intellectual disability, Raymond type

X-linked intellectual disability, Schimke type

X-linked intellectual disability, Seemanova type

X-linked intellectual disability, Shashi type

Syndromic X-linked intellectual disability type 11

X-linked intellectual disability, Shrimpton type

MRXS9

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, Stocco Dos Santos type

X-linked intellectual disability, Stoll type

X-linked intellectual disability, Sutherland-Haan type

X-linked intellectual disability, Turner type

X-linked intellectual disability, Van Esch type

X-linked intellectual disability, Vitale type

X-linked intellectual disability, Wilson type

X-linked intellectual disability, Wittwer type

Wittwer syndrome

X-linked intellectual disability, Zorick type

X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome

X-linked lethal multiple pterygium syndrome

X-linked lissencephaly with abnormal genitalia

X-linked lissencephaly with ambiguous genitalia · X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome

X-linked lymphoproliferative disease due to SAP deficiency

X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency · X-linked lymphoproliferative disease due to SH2D1A deficiency

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2

X-linked mandibulofacial dysostosis

Mandibulofacial dysostosis, Toriello type · X-linked branchial arch syndrome

X-linked mendelian susceptibility to mycobacterial diseases

X-linked MSMD

X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2

X-linked myopathy with excessive autophagy

XMEA

X-linked myopathy with postural muscle atrophy

XMPMA

X-linked myotubular myopathy-abnormal genitalia syndrome

Xq28 contiguous gene deletion syndrome

X-linked neurodegenerative syndrome, Bertini type

X-linked neurodegenerative syndrome, Hamel type