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autosomal recessive intellectual developmental disorder 66
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DOID_0081227 |
[An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13.] |
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autosomal recessive intellectual developmental disorder 67
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DOID_0081228 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15.] |
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autosomal recessive intellectual developmental disorder 68
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DOID_0081229 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13.] |
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autosomal recessive intellectual developmental disorder 60
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DOID_0081222 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13.] |
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glycosylphosphatidylinositol biosynthesis defect 16
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DOID_0081223 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23.] |
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autosomal recessive intellectual developmental disorder 63
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DOID_0081224 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32.] |
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autosomal recessive intellectual developmental disorder 64
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DOID_0081225 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24.] |
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spermatogenic failure 73
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DOID_0070572 |
[A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that has_material_basis_in homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33.] |
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spermatogenic failure 74
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DOID_0070573 |
[A spermatogenic failure characterized by nonobstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.33.] |
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spermatogenic failure 71
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DOID_0070570 |
[A spermatogenic failure characterized by nonobstructive azoospermia that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12.] |
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spermatogenic failure 72
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DOID_0070571 |
[A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in lack of sperm motility, that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.] |
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spermatogenic failure 79
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DOID_0070578 |
[A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23.] |
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spermatogenic failure 80
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DOID_0070579 |
[A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.3.] |
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spermatogenic failure 77
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DOID_0070576 |
[A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23.] |
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spermatogenic failure 78
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DOID_0070577 |
[A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that has_material_basis_in homozygous mutation in the IQCN gene on chromosome 19p13.11.] |
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spermatogenic failure 75
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DOID_0070574 |
[A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3.] |
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spermatogenic failure 76
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DOID_0070575 |
[A spermatogenic failure characterized by oligoasthenoteratozoospermia that has_material_basis_in homozygous mutation in the CCDC34 gene on chromosome 11p14.1.] |
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Mitral stenosis
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HP_0001718 |
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Abnormal mitral valve physiology
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HP_0031481 |
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autosomal recessive intellectual developmental disorder 58
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DOID_0081220 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12.] |
