GMS syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME Goniodysgenesis - intellectual deficit - short stature |
| Number of Symptoms | 25 |
| OrphanetNr: | 2090 |
| OMIM Id: |
138770
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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:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Goniodysgenesis
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000322) | Short philtrum | 130 / 7739 | ||||
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(HPO:0009796) | Branchial cyst | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
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(HPO:0000494) | Downslanted palpebral fissures | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0008053) | Aplasia/Hypoplasia of the iris | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000558) | Rieger anomaly | 5 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0004467) | Preauricular pit | 39 / 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:0200055) | Small hand | 71 / 7739 | ||||
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(HPO:0004279) | Short palm | 323 / 7739 | ||||
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(HPO:0001622) | Premature birth | Frequent [Orphanet] | 100 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0003508) | Proportionate short stature | 12 / 7739 | ||||
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(HPO:0005180) | Tricuspid regurgitation | 20 / 7739 | ||||
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(HPO:0001702) | Abnormality of the tricuspid valve | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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