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Disease	Synonyms	Description
autosomal recessive limb-girdle muscular dystrophy type 2P	LGMD2P; MDDGC9; muscular dystrophy-dystroglycanopa.. [+] LGMD2P; MDDGC9; muscular dystrophy-dystroglycanopathy (limb-girdle) type C9; muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. [-]
autosomal recessive limb-girdle muscular dystrophy type 2T	LGMD2T; MDDGC14; muscular dystrophy limb-girdle ty.. [+] LGMD2T; MDDGC14; muscular dystrophy limb-girdle type 2T; muscular dystrophy-dystroglycanopathy (limb-girdle) type C14; muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. [-]
autosomal recessive limb-girdle muscular dystrophy type 2U	LGMD2U; autosomal recessive limb-girdle muscular d.. [+] LGMD2U; autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency; MDDGC7; muscular dystrophy limb-girdle type 2U; muscular dystrophy-dystroglycanopathy (limb-girdle) type C7 [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. [-]
autosomal recessive limb-girdle muscular dystrophy type 2M	LGMD2M; MDDGC4; muscular dystrophy-dystroglycanopa.. [+] LGMD2M; MDDGC4; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4 [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. [-]
autosomal recessive limb-girdle muscular dystrophy type 2K	limb-girdle muscular dystrophy-intellectual disabi.. [+] limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD2K; MDDGC1; muscular dystrophy limb-girdle type 2K; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). [-]
autosomal recessive limb-girdle muscular dystrophy type 2N	LGMD2N; MDDGC2; muscular dystrophy-dystroglycanopa.. [+] LGMD2N; MDDGC2; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2; muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. [-]
autosomal recessive limb-girdle muscular dystrophy type 2I	Limb-girdle muscular dystrophy due to FKRP deficie.. [+] Limb-girdle muscular dystrophy due to FKRP deficiency; LGMD2I; MDDGC5; muscular dystrophy limb-girdle type 2I; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5; muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. [-]
autosomal dominant limb-girdle muscular dystrophy type 1B	Limb-girdle muscular dystrophy due to lamin A/C de.. [+] Limb-girdle muscular dystrophy due to lamin A/C deficiency; LGMD1B; muscular dystrophy, limb-girdle type 1B; proximal muscular dystrophy type 1B [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding lamin A/C (LMNA). [-]
autosomal dominant limb-girdle muscular dystrophy type 1H	LGMD1H; muscular dystrophy limb-girdle type 1H	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23. [-]
autosomal dominant limb-girdle muscular dystrophy type 2	LGMD1F; muscular dystrophy limb-girdle type 1F; au.. [+] LGMD1F; muscular dystrophy limb-girdle type 1F; autosomal dominant limb-girdle muscular dystrophy type 1F [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. [-]
autosomal dominant limb-girdle muscular dystrophy type 1	LGMD1D; muscular dystrophy limb-girdle type 1E; mu.. [+] LGMD1D; muscular dystrophy limb-girdle type 1E; muscular dystrophy limb-girdle type 1D; autosomal dominant limb-girdle muscular dystrophy type 1E [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. [-]
autosomal dominant limb-girdle muscular dystrophy type 3	LGMD1G; muscular dystrophy limb-girdle type 1G; au.. [+] LGMD1G; muscular dystrophy limb-girdle type 1G; autosomal dominant limb-girdle muscular dystrophy type 1G [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. [-]
autosomal dominant nonsyndromic deafness 1	LFHL1; autosomal dominant deafness 1; DFNA1; hered.. [+] LFHL1; autosomal dominant deafness 1; DFNA1; hereditary low frequency hearing loss 1; Konigsmark syndrome; autosomal dominant deafness 1, with or without thrombocytopenia [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. [-]
Stromme syndrome	lethal fetal brain malformation-duodenal atresia-b.. [+] lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; CILD31; jejunal atresia with microcephaly and ocular anomalies; primary ciliary dyskinesia 31; apple peel syndrome with microcephaly and ocular anomalies [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. [-]
congenital muscular dystrophy due to LMNA mutation	L-CMD; LMNA-related congenital muscular dystrophy; .. [+] LMNA-related congenital muscular dystrophy; L-CMD; congenital muscular dystrophy LMNA-related [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. [-]
congenital myasthenic syndrome 10	LGM; CMS Ib; CMS10; CMS1B; congenital myasthenic s.. [+] LGM; CMS Ib; CMS10; CMS1B; congenital myasthenic syndrome type Ib; familial limb-girdle myasthenia; congenital muscular dystrophy merosin-positive [-]	A congenital myasthenic syndrome characterized by ..[+] A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. [-]
hypotrichosis 6	Lah1; autosomal recessive localized hypotrichosis; .. [+] Lah1; autosomal recessive localized hypotrichosis; Hypt6; Monilethrix-like hypotrichosis; Hypotrichosis, Localized, Autosomal Recessive 1 [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. [-]
hypotrichosis 7	Lah2; hypotrichosis, localized, autosomal recessiv.. [+] Lah2; hypotrichosis, localized, autosomal recessive 2; Hypt7; total Mari type hypotrichosis, [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. [-]
hypotrichosis 8	Lah3; Hypt8; hypotrichosis, localized, autosomal r.. [+] Lah3; Hypt8; hypotrichosis, localized, autosomal recessive 3 [-]	A hypotrichosis has_material_basis_in a autosomal ..[+] A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2. [-]
hereditary spastic paraplegia 23	Lison syndrome; spastic paraplegia 23; Spastic par.. [+] Lison syndrome; spastic paraplegia 23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraplegia with pigmentary abnormalities; SPG23 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. [-]
hereditary spastic paraplegia 35	leukodystrophy, dysmyelinating and spastic parapar.. [+] leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia; autosomal recessive spastic paraplegia 35; autosomal recessive spastic paraplegia type 35; FAHN; fatty acid hydroxylase-associated neurodegeneration; SPG35 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. [-]
hyperphosphatemic familial tumoral calcinosis	lipocalcinogranulomatosis; cortical hyperostosis w.. [+] lipocalcinogranulomatosis; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HHS; hypercalcemic tumoral calcinosis; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; morbus Teutschlaender; PHPTC; primary hyperphosphatemic tumoral calcinosis; HFTC; hyperostosis with hyperphosphatemia; hyperphosphatemia tumoral calcinosis; tumoral calcinosis with hyperphosphatemia [-]	A calcinosis characterized by autosomal recessive ..[+] A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. [-]
Castleman disease	lymphoid hamartoma; angiofollicular lymph hyperpla.. [+] lymphoid hamartoma; angiofollicular lymph hyperplasia; angiofollicular lymph node hyperplasia; giant lymph node hyperplasia [-]	A lymphoproliferative syndrome characterized by on..[+] A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. [-]
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	Lytico-Bodig disease; Guam disease; Amyotrophic la.. [+] Lytico-Bodig disease; Guam disease; Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome; amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam; parkinsonism-dementia-ALS complex; PDALS; ALS-PDC [-]	A neurodegenerative disease characterized by chron..[+] A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. [-]
pentosuria	L-xylulose reductase deficiency; L-xylulosuria; es.. [+] L-xylulosuria; L-xylulose reductase deficiency; essential pentosuria; PNTSU; xylitol dehydrogenase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. [-]
Oliver-McFarlane syndrome	long eyelashes-intellectual disability syndrome; O.. [+] long eyelashes-intellectual disability syndrome; OMCS; trichomegaly-retina pigmentary degeneration-dwarfism syndrome; eyelashes long mental retardation [-]	A syndrome characterized by trichomegaly, severe c..[+] A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. [-]
congenital leptin deficiency	LEPD; leptin deficiency or dysfunction; morbid obe.. [+] leptin deficiency or dysfunction; LEPD; morbid obesity; obesity due to congenital leptin deficiency [-]	A syndrome characterized by severe early-onset obe..[+] A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. [-]
mucopolysaccharidosis Ih	L-iduronidase deficiency, Hurler type; gargoylism; .. [+] L-iduronidase deficiency, Hurler type; gargoylism; Hurler disease MPS type 1H; Hurler-Pfaundler syndrome; MPS1-H; Mucopolysaccharidosis type I severe form; dysostosis multiplex; Dysostosis multiplex syndrome [-]	A mucopolysaccharidosis I characterized by a sever..[+] A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. [-]
familial lipase maturation factor 1 deficiency	LPL and HL deficiency; LPL and HTGL deficiency; li.. [+] LPL and HTGL deficiency; LPL and HL deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; combined lipase deficiency; familial LMF1 deficiency [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. [-]
SHORT syndrome	Lipodystrophy-Rieger anomaly-diabetes syndrome; Aa.. [+] Lipodystrophy-Rieger anomaly-diabetes syndrome; Aarskog-Ose-Pande syndrome; Rieger anomaly-partial lipodystrophy syndrome; short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay [-]	A syndrome of multiple anomalies whose name stands..[+] A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. [-]
combined oxidative phosphorylation deficiency 31	lethal left ventricular non-compaction-seizures-hy.. [+] lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome; COXPD31 [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. [-]
combined oxidative phosphorylation deficiency 12	LTBL; leukoencephalopathy-thalamus and brainstem a.. [+] LTBL; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome; leukoencephalopathy with thalamus and brainstem involvement and high lactate; COXPD12 [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. [-]
Torrance type platyspondylic dysplasia	lethal short-limbed platyspondylic dwarfism, Torra.. [+] lethal short-limbed platyspondylic dwarfism, Torrance type; platyspondylic dysplasia, Torrance-Luton type; platyspondylic lethal skeletal dysplasia, Torrance type; PLSD-T; PLSDT; thanatophoric dysplasia, Torrance variant [-]	An osteochondrodysplasia characterized by decrease..[+] An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]
gnathodiaphyseal dysplasia	Levin syndrome 2; GDD; gnathodiaphyseal sclerosis; .. [+] Levin syndrome 2; GDD; gnathodiaphyseal sclerosis; osteogenesis imperfecta with unusual skeletal lesions; osteogenesis imperfecta, Levin type [-]	An osteochondrodysplasia characterized by cementoo..[+] An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. [-]
Sturge-Weber syndrome	leptomeningeal angiomatosis; encephalofacial angio.. [+] leptomeningeal angiomatosis; encephalofacial angiomatosis; encephalotrigeminal angiomatosis; meningeal capillary angiomatosis; Sturge-Weber-Dimitri syndrome; Sturge-Weber-Krabbe syndrome; SWS; fourth phacomatosis; Sturge-Weber-Krabbe angiomatosis [-]	A vascular disease characterized by intracranial v..[+] A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. [-]
familial isolated trichomegaly	long eyelashes; TCMGLY	An eyelid disease characterized by prolonged anage..[+] An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compund heterozygous mutation in the FGF5 gene on chromosome 4q21.21. [-]
Gordon Holmes syndrome	luteinizing hormone-releasing hormone deficiency w.. [+] luteinizing hormone-releasing hormone deficiency with ataxia; LHRH deficiency and ataxia; CAHH; cerebellar ataxia-hypogonadism syndrome; GDHS [-]	An inherited metabolic disorder characterized by p..[+] An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1. [-]
primary hyperoxaluria type 2	L-glyceric aciduria; oxalosis IIglyoxylate reducta.. [+] L-glyceric aciduria; oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency; D-glycerate dehydrogenase deficiency; HP2; glyoxylate reductase/hydroxypyruvate reductase deficiency; oxalosis II [-]	A primary hyperoxaluria characterized by elevated ..[+] A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. [-]
Waisman syndrome	Laxova-Opitz syndrome; early-onset parkinsonism-in.. [+] Laxova-Opitz syndrome; early-onset parkinsonism-intellectual disability syndrome [-]	A syndrome characterized by delayed psychomotor de..[+] A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. [-]
syndromic microphthalmia 1	Lenz type microphthalmia; Lenz microphthalmia; Len.. [+] Lenz microphthalmia; Lenz type microphthalmia; Lenz dysplasia; MCOPS1; 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. [-]
MLS syndrome	linear skin defects with multiple congenital anoma.. [+] linear skin defects with multiple congenital anomalies [-]	A syndrome characterized by linear skin defects an..[+] A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. [-]
Schinzel type phocomelia	limb/pelvis-hypoplasia/aplasia syndrome; LPHAS; AA.. [+] LPHAS; limb/pelvis-hypoplasia/aplasia syndrome; AARRS; absence of ulna and fibula with severe limb deficiency; Al Awadi-Raas-Rothschild syndrome; Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome; aplasia/hypoplasia of limbs and pelvis; congenital absence of ulna and fibula; Schinzel phocomelia syndrome; severe limb deficit [-]	A syndrome characterized by severe malformations o..[+] A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. [-]
X-linked lissencephaly 1	lissencephaly type 1 due to doublecortin gene muta.. [+] lissencephaly type 1 due to doublecortin gene mutation; XLIS1 [-]	A lissencephaly characterized by classic lissencep..[+] A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. [-]
muscular dystrophy-dystroglycanopathy type C12	Limb-girdle muscular dystrophy due to POMK deficie.. [+] Limb-girdle muscular dystrophy due to POMK deficiency; LGMD due to POMK deficiency; MDDGC12; muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related [-]	A muscular dystrophy-dystroglycanopathy characteri..[+] A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. [-]
muscular dystrophy-dystroglycanopathy type C8	LGMDR24; autosomal recessive limb-girdle muscular .. [+] LGMDR24; autosomal recessive limb-girdle muscular dystrophy 24; MDDGC2; muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8; muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related [-]	A muscular dystrophy-dystroglycanopathy characteri..[+] A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. [-]

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