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Disease	Synonyms	Description	Articles	Phenotypes
Van den Ende-Gupta syndrome	Marden-Walker-like syndrome without psychmotor ret.. [+] Marden-Walker-like syndrome without psychmotor retardation; Marden-Walker-like syndrome; VDEGS; blepharophimosis, arachnodactyly, and congenital contractures [-]	A syndrome characterized by severe contractual ara..[+] A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. [-]
chromosome 2q37 deletion syndrome	monosomy 2q37qter; 2q37 microdeletion syndrome; Al.. [+] monosomy 2q37qter; 2q37 microdeletion syndrome; Albright hereditary osteodystrophy type 3; Albright hereditary osteodystrophy-like syndrome; BDMR; Del(2)(q37); deletion 2q37; Brachydactyly-intellectual disability syndrome; Albright's hereditary osteodystrophy-like syndrome [-]	A chromosomal deletion syndrome characterized by v..[+] A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. [-]
Schaaf-Yang syndrome	MAGEL2-related PWLS; MAGEL2-related Prader-Willi-l.. [+] MAGEL2-related PWLS; MAGEL2-related Prader-Willi-like syndrome; PWLS; SHFYNG [-]	A syndrome characterized by delayed psychomotor de..[+] A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. [-]
X-linked deafness 2	mixed deafness with perilymphatic gusher; conducti.. [+] mixed deafness with perilymphatic gusher; conductive deafness 3 with stapes fixation; conductive deafness with stapes fixation; DFN3; DFNX2; Nance deafness; X-linked deafness type 2; X-linked mixed conductive and neurosensory deafness; X-linked mixed conductive and neurosensory hearing loss; X-linked mixed conductive and sensorineural deafness; X-linked mixed conductive and sensorineural hearing loss; X-linked stapes gusher syndrome [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. [-]
Leber hereditary optic neuropathy and dystonia	Marsden syndrome; Leber optic atrophy and dystonia.. [+] Marsden syndrome; Leber optic atrophy and dystonia; Leber optic atrophy with dystonia; LDYT; familial dystonia with visual failure and striatal lucencies [-]	A Leber plus disease characterized by Leber heredi..[+] A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. [-]
46,XY sex reversal 8	male pseudohermaphroditism due to deficiency of te.. [+] male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase; SRXY8; TDD [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. [-]
Frank-Ter Haar syndrome	megalocornea, multiple skeletal anomalies, and dev.. [+] megalocornea, multiple skeletal anomalies, and developmental delay; autosomal recessive Melnick-Needles syndrome; Borrone dermatocardioskeletal syndrome; FTHS; Ter Haar syndrome [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. [-]
syndromic microphthalmia 1	MCOPS1; Lenz dysplasia; Lenz type microphthalmia; .. [+] MCOPS1; Lenz dysplasia; Lenz type microphthalmia; Lenz microphthalmia; syndromic microphthalmia 4 [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. [-]
syndromic microphthalmia 12	microphthalmia with or without pulmonary hypoplasi.. [+] microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects; MCOPS12 [-]	A syndromic microphthalmia characterized by bilate..[+] A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. [-]
syndromic microphthalmia 3	microphthalmia and esophageal atresia syndrome; MC.. [+] microphthalmia and esophageal atresia syndrome; MCOPS3; AEG syndrome; anophthalmia clinical with associated anomalies; anophthalmia esophageal genital syndrome; anophthalmia microphthalmia esophageal atresia; anophthalmia/microphthalmia-esophageal atresia syndrome; SOX2 anophthalmia syndrome; syndromic microphthalmia type 3 [-]	A syndromic microphthalmia characterized by clinic..[+] A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. [-]
syndromic microphthalmia 14	microphthalmia/coloboma and skeletal dysplasia syn.. [+] microphthalmia/coloboma and skeletal dysplasia syndrome; microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia; MCSKS; MCOPS14; colobomatous microphthalmia-rhizomelic dysplasia syndrome [-]	A syndromic microphthalmia characterized by microp..[+] A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. [-]
syndromic microphthalmia 8	MMEP syndrome; microcephaly-microphthalmia-ectroda.. [+] MMEP syndrome; microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome; MCOPS8; syndromic microphthalmia type 8; Viljoen-Smart syndrome [-]	A syndromic microphthalmia characterized by microc..[+] A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. [-]
syndromic microphthalmia 11	MCOPS11	A syndromic microphthalmia characterized by microp..[+] A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. [-]
syndromic microphthalmia 6	microphthalmia and pituitary anomalies; microphtha.. [+] microphthalmia and pituitary anomalies; microphthalmia with brain and digit anomalies; MCOPS6; anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia; Bakrania-Ragge syndrome; syndromic microphthalmia type 6 [-]	A syndromic microphthalmia characterized by clinic..[+] A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. [-]
syndromic microphthalmia 5	MCOPS5; syndromic microphthalmia type 5; syndromic.. [+] MCOPS5; syndromic microphthalmia type 5; syndromic microphthalmia/anophthalmia due to OTX2 mutation [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. [-]
syndromic microphthalmia 9	Matthew-Wood syndrome; anophthalmia-pulmonary hypo.. [+] Matthew-Wood syndrome; anophthalmia-pulmonary hypoplasia syndrome; anophthalmia/microphthalmia and pulmonary hypoplasia; pulmonary agenesis microphthalmi and diaphragmatic defect; spear syndrome; clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations [-]	A syndromic microphthalmia characterized by bilate..[+] A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. [-]
linear skin defects with multiple congenital anomalies 1	Microphthalmia with linear skin defect syndrome; M.. [+] Microphthalmia with linear skin defect syndrome; MLS syndrome; MIDAS syndrome; microphthalmia-dermal aplasia-sclerocornea syndrome; MCOPS7; syndromic microphthalmia 7; syndromic microphthalmia type 7 [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. [-]
syndromic microphthalmia 2	microphthalmia cataracts radiculomegaly and septal.. [+] microphthalmia cataracts radiculomegaly and septal heart defects; MCOPS2; MAA2; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; oculofaciocardiodental syndrome; OFCD syndrome; syndromic microphthalmia type 2; ANOP2 [-]	A syndromic microphthalmia characterized by dental..[+] A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4. [-]	1 articles	14 matches
syndromic microphthalmia 13	MCOPS13; Maine microphthalmos; colobomatous microp.. [+] Maine microphthalmos; MCOPS13; colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation; X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome [-]	A syndromic microphthalmia characterized by colobo..[+] A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. [-]
syndromic microphthalmia 10	microphthalmia-brain atrophy syndrome; MOBA; MCOPS.. [+] MOBA; microphthalmia-brain atrophy syndrome; MCOPS10 [-]	A syndromic microphthalmia characterized by congen..[+] A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. [-]
syndactyly type 8	metacarpal 4-5 fusion; fusion of metacarpals 4 and.. [+] metacarpal 4-5 fusion; fusion of metacarpals 4 and 5 [-]	A syndactyly characterized by isolated fusion of t..[+] A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. [-]
Basilicata-Akhtar syndrome	MRXS36; X-linked syndromic mental retardation 36; .. [+] MRXS36; X-linked syndromic mental retardation 36; X-linked syndromic mental retardation Basilicata-Akhtar type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. [-]
Van Esch-O'Driscoll syndrome	MRXSVEOD; VEODS; X-linked intellectual disability,.. [+] MRXSVEOD; VEODS; X-linked intellectual disability, Van Esch type; X-linked syndromic mental retardation Van Esch-O'Driscoll type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. [-]
Paganini-Miozzo syndrome	MRXSPM	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. [-]
X-linked intellectual developmental disorder 108	MRX108	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. [-]
immunodeficiency 38	Mendelian susceptibility to mycobacterial diseases.. [+] Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency; autosomal recessive ISG15 deficiency; IMD38; immunodeficiency 38 with basal ganglia calcification; immunodeficiency 38, mycobacteriosis, autosomal recessive [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. [-]
immunodeficiency 31A	MSMD due to partial STAT1 deficiency; MSMD due to .. [+] MSMD due to partial STAT1 deficiency; MSMD due to partial signal transducer and activator of transcription 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency; autosomal dominant immunodeficiency 31A, mycobacteriosis; IMD31A [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. [-]
immunodeficiency 21	MonoMAC; monocytopenia with susceptibility to infe.. [+] MonoMAC; monocytopenia with susceptibility to infections; monocytopenia and mycobacterial infection syndrome; monocyte-B-natural killer-dendritic cell deficiency syndrome; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; DCML; dendritic cell, monocyte, B and NK lymphoid deficiency; GATA2 deficiency; IMD21 [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. [-]
immunodeficiency 29	MSMD due to complete interleukin 12B deficiency; M.. [+] MSMD due to complete interleukin 12B deficiency; MSMD due to complete IL12B deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency; IL12B deficiency; IMD29; immunodeficiency 29, mycobacteriosis [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. [-]
immunodeficiency 32A	MSMD due to partial IRF8 deficiency; MSMD due to p.. [+] MSMD due to partial IRF8 deficiency; MSMD due to partial interferon regulatory factor 8 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency; IMD32A; immunodeficiency 32A, mycobacteriosis, autosomal dominant [-]	A dendritic cell deficiency characterized by marke..[+] A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. [-]
immunodeficiency 30	MSMD due to complete interleukin 12 receptor beta .. [+] MSMD due to complete interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; IMD30 [-]	A T cell and NK cell immunodeficiency characterize..[+] A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. [-]
immunodeficiency 28	MSMD due to complete interferon gamma receptor 2 d.. [+] MSMD due to complete interferon gamma receptor 2 deficiency; MSMD due to complete IFNgammaR2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency; IFNGR2 deficiency; IMD28; immunodeficiency 28, mycobacteriosis [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. [-]
immunodeficiency 50	MSN-related combined immunodeficiency; CID due to .. [+] MSN-related combined immunodeficiency; CID due to Moesin deficiency; combined immunodeficiency due to Moesin deficiency; IMD50; X-linked Moesin-associated immunodeficiency; immunodeficiency 50 X linked recessive [-]	A combined immunodeficiency characterized by profo..[+] A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. [-]
congenital megabladder	MGBL	A bladder disease characterized by a massively dil..[+] A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. [-]
non-syndromic X-linked intellectual disability 2	MRX2; X-linked mental retardation 2; X-linked men.. [+] MRX2; X-linked mental retardation 2; X-linked mental retardation 2 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. [-]
non-syndromic X-linked intellectual disability 104	MRX104; X-linked mental retardation 104	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. [-]
non-syndromic X-linked intellectual disability 19	MRX19; X-linked mental retardation 19	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 or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. [-]
non-syndromic X-linked intellectual disability 103	MRX103; X-linked mental retardation 103	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. [-]
non-syndromic X-linked intellectual disability ARX-related	MRXARX; ARX-related intellectual disability; X-lin.. [+] MRXARX; ARX-related intellectual disability; X-linked mental retardation 29; X-linked mental retardation 29 and others; X-linked mental retardation 32; X-linked mental retardation 33; X-linked mental retardation 38; X-linked mental retardation 43; X-linked mental retardation 52; X-linked mental retardation 76; X-linked mental retardation 87; X-linked mental retardation with or without seizures ARX-related; X-linked mental retardation 54 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. [-]
non-syndromic X-linked intellectual disability 21	MRX21; MRX34; X-linked mental retardation 21; X-li.. [+] MRX34; MRX21; X-linked mental retardation 21; X-linked mental retardation 21/34; X-linked mental retardation 34 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. [-]
non-syndromic X-linked intellectual disability 58	MRX58; X-linked mental retardation 58	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. [-]
female-restricted syndromic X-linked intellectual disability 99	MRXS99F; female-restricted syndromic X-linked ment.. [+] MRXS99F; female-restricted syndromic X-linked mental retardation 99; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. [-]
non-syndromic X-linked intellectual disability 99	MRX99; X-linked mental retardation 99	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. [-]
non-syndromic X-linked intellectual disability 14	MRX14; X-linked mental retardation 14	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. [-]
non-syndromic X-linked intellectual disability 50	MRX50; X-linked mental retardation 50	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	MRX84; X-linked mental retardation 84	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 92	MRX92; X-linked mental retardation 92	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 9	MRX44; MRX9; X-linked mental retardation 44; X-lin.. [+] MRX9; MRX44; X-linked mental retardation 44; X-linked mental retardation 9 [-]	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 105	MRX105; X-linked mental retardation 105	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	MRX17; MRX31; X-linked mental retardation 17; X-li.. [+] MRX31; MRX17; X-linked mental retardation 17; X-linked mental retardation 31; Xp11.22 microduplication syndrome [-]	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. [-]

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