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Disease	Synonyms	Description
non-syndromic X-linked intellectual disability 50	XLID50; X-linked intellectual developmental disord.. [+] XLID50; X-linked intellectual developmental disorder 50; X-linked mental retardation 50; MRX50 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. [-]
non-syndromic X-linked intellectual disability 84	X-linked mental retardation 84; MRX84	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. [-]
non-syndromic X-linked intellectual disability 89	X-linked mental retardation 89; MRX89	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3. [-]
non-syndromic X-linked intellectual disability 92	X-linked mental retardation 92; MRX92	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. [-]
non-syndromic X-linked intellectual disability 81	X-linked mental retardation 81; MRX81	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. [-]
non-syndromic X-linked intellectual disability 9	X-linked mental retardation 9; X-linked mental ret.. [+] X-linked mental retardation 9; X-linked mental retardation 44; MRX44; MRX9 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. [-]
non-syndromic X-linked intellectual disability 96	X-linked mental retardation 96; MRX96	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. [-]
non-syndromic X-linked intellectual disability 105	X-linked mental retardation 105; MRX105	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. [-]
chromosome Xp11.22 duplication syndrome	Xp11.22 microduplication syndrome; X-linked mental.. [+] Xp11.22 microduplication syndrome; X-linked mental retardation 31; X-linked mental retardation 17; MRX17; MRX31 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. [-]
non-syndromic X-linked intellectual disability 1	X-linked mental retardation 78; X-linked mental re.. [+] X-linked mental retardation 78; X-linked mental retardation 18; X-linked mental retardation 1/78; X-linked mental retardation 1; MRX1; MRX18; MRX78 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. [-]
non-syndromic X-linked intellectual disability 77	X-linked mental retardation 77; MRX77	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. [-]
non-syndromic X-linked intellectual disability 100	X-linked mental retardation 100; MRX100	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. [-]
non-syndromic X-linked intellectual disability 90	X-linked mental retardation 90; MRX90	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1. [-]
Tonne-Kalscheuer syndrome	X-linked mental retardation 61; intellectual devel.. [+] X-linked mental retardation 61; intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia; MRX61; TOKAS [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. [-]
non-syndromic X-linked intellectual disability 91	X-linked mental retardation 91; MRX91	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. [-]
non-syndromic X-linked intellectual disability 98	X-linked mental retardation 98; MRX98	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. [-]
non-syndromic X-linked intellectual disability 93	X-linked mental retardation with macrocephaly; X-l.. [+] X-linked mental retardation with macrocephaly; X-linked mental retardation 93; MRX93 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. [-]
non-syndromic X-linked intellectual disability 97	X-linked mental retardation 97; X-linked mental re.. [+] X-linked mental retardation 97; X-linked mental retardation 65; MRX65; MRX97; MRXZ [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. [-]
non-syndromic X-linked intellectual disability 53	X-linked mental retardation 53; MRX53	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. [-]
non-syndromic X-linked intellectual disability 101	X-linked mental retardation 101; MRX101	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. [-]
non-syndromic X-linked intellectual disability 23	X-linked mental retardation 23; MRX23	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24. [-]
non-syndromic X-linked intellectual disability 63	X-linked mental retardation 68; X-linked mental re.. [+] X-linked mental retardation 68; X-linked mental retardation 63; ACSL4-related intellectual disability; MRX68; MRX63 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. [-]
non-syndromic X-linked intellectual disability 30	X-linked mental retardation 47; X-linked mental re.. [+] X-linked mental retardation 47; X-linked mental retardation 30/47; X-linked mental retardation 30; MRX30; MRX47 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. [-]
non-syndromic X-linked intellectual disability 82	X-linked mental retardation 82; MRX82	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25. [-]
non-syndromic X-linked intellectual disability 88	X-linked mental retardation 88; MRX88	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. [-]
non-syndromic X-linked intellectual disability 107	X-linked mental retardation 107; MRX107	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24. [-]
non-syndromic X-linked intellectual disability 46	X-linked mental retardation 46; MRX46	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. [-]
non-syndromic X-linked intellectual disability 42	X-linked mental retardation 42; MRX42	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26. [-]
non-syndromic X-linked intellectual disability 41	X-linked mental retardation 48; X-linked mental re.. [+] X-linked mental retardation 48; X-linked mental retardation 41; MRX41; MRX48 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. [-]
non-syndromic X-linked intellectual disability 72	X-linked mental retardation 72; MRX72	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28. [-]
Raynaud-Claes syndrome	X-linked mental retardation 49; X-linked mental re.. [+] X-linked mental retardation 49; X-linked mental retardation 15; MRX15; MRX49; MRXSRC [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. [-]
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	X-linked dominant chondrodysplasia-hydrocephaly-mi.. [+] X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome; X-linked dominant chondrodysplasia, Chassaing-Lacombe type [-]	A syndrome characterized by chondrodysplasia assoc..[+] A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. [-]
McLeod syndrome	X-linked McLeod syndrome; McLeod syndrome with or .. [+] X-linked McLeod syndrome; McLeod syndrome with or without chronic granulomatous disease; McLeod type neuroacanthocytosis; MLS; McLeod neuroacanthocytosis syndrome [-]	A neuroacanthocytosis characterized by absence of ..[+] A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. [-]
De Sanctis-Cacchione syndrome	xeroderma pigmentosum with neurologic manifestatio.. [+] xeroderma pigmentosum with neurologic manifestation [-]	A xeroderma pigmentosum characterized by xeroderma..[+] A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. [-]
hydroxykynureninuria	xanthurenic aciduria; kynureninase deficiency	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. [-]