Search Diseases
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| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Schinzel type phocomelia
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limb/pelvis-hypoplasia/aplasia syndrome; LPHAS; AA..
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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
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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.
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X-linked lissencephaly 1
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lissencephaly type 1 due to doublecortin gene muta..
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lissencephaly type 1 due to doublecortin gene mutation; XLIS1
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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.
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muscular dystrophy-dystroglycanopathy type C12
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Limb-girdle muscular dystrophy due to POMK deficie..
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Limb-girdle muscular dystrophy due to POMK deficiency; LGMD due to POMK deficiency; MDDGC12; muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
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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.
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muscular dystrophy-dystroglycanopathy type C8
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LGMDR24; autosomal recessive limb-girdle muscular ..
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LGMDR24; autosomal recessive limb-girdle muscular dystrophy 24; MDDGC2; muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8; muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
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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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