Hypospadias - intellectual deficit, Goldblatt type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Goldblatt-Wallis syndrome |
| Number of Symptoms | 21 |
| OrphanetNr: | 2261 |
| OMIM Id: |
241760
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| ICD-10: |
Q87.8 |
| 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:
| Prevalence: | No data available. |
| Inheritance: |
X-linked recessive inheritance Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Frequent [Orphanet] | 221 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0000444) | Convex nasal ridge | Frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000243) | Trigonocephaly | Frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0000664) | Synophrys | Frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0008544) | Abnormally folded helix | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0004209) | Clinodactyly of the 5th finger | Occasional [Orphanet] | 288 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0001388) | Joint laxity | 117 / 7739 | ||||
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(HPO:0001597) | Abnormality of the nail | 115 / 7739 | ||||
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(HPO:0008388) | Abnormality of the toenails | Frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0001231) | Abnormality of the fingernails | Frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Beaked nails | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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