Aniridia - renal agenesis - psychomotor retardation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Sommer-Rathbun-Battles syndrome |
| Number of Symptoms | 21 |
| OrphanetNr: | 1064 |
| OMIM Id: |
206750
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| ICD-10: |
Q87.8 |
| UMLs: |
C1859782 |
| MeSH: |
C536371 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
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 aniridia -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0008678) | Renal hypoplasia/aplasia | Very frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000122) | Unilateral renal agenesis | 24 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0001363) | Craniosynostosis | Very frequent [Orphanet] | 132 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0002714) | Downturned corners of mouth | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000506) | Telecanthus | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0001087) | Congenital glaucoma | 12 / 7739 | ||||
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(HPO:0011498) | Partial aniridia | 1 / 7739 | ||||
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(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0008053) | Aplasia/Hypoplasia of the iris | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000501) | Glaucoma | Very frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0001334) | Communicating hydrocephalus | Frequent [Orphanet] | 32 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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