Lower limb deficiency - hypospadias
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Fried-Goldberg-Mundel syndrome
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Number of Symptoms
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13
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OrphanetNr:
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2487
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OMIM Id:
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
X-linked recessive inheritance
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Syndromic urogenital tract malformation
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare urogenital disease
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1
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(HPO:0000069)
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Abnormality of the ureter |
Frequent [Orphanet]
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47 / 7739
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2
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(HPO:0000047)
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Hypospadias |
Very frequent [Orphanet]
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250 / 7739
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3
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(HPO:0000470)
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Short neck |
Frequent [Orphanet]
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345 / 7739
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4
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(HPO:0000357)
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Abnormal location of ears |
Frequent [Orphanet]
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328 / 7739
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5
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(HPO:0100559)
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Lower limb asymmetry |
Frequent [Orphanet]
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30 / 7739
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6
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(HPO:0002992)
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Abnormality of the tibia |
Frequent [Orphanet]
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51 / 7739
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7
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(HPO:0010769)
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Pilonidal sinus |
Frequent [Orphanet]
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35 / 7739
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8
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(HPO:0001622)
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Premature birth |
Frequent [Orphanet]
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100 / 7739
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9
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(HPO:0001743)
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Abnormality of the spleen |
Frequent [Orphanet]
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37 / 7739
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10
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(HPO:0030680)
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Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
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355 / 7739
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11
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(HPO:0002093)
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Respiratory insufficiency |
Frequent [Orphanet]
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410 / 7739
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12
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(HPO:0400004)
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Long ear |
Frequent [Orphanet]
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94 / 7739
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13
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(HPO:0011420)
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Death |
Frequent [Orphanet]
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184 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |