Microphthalmia - ankyloblepharon - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ANOP1, FORMERLY MICROPHTHALMIA WITH ANKYLOBLEPHARON AND MENTAL RETARDATION MCOPS4 Syndromic microphthalmia type 4 |
| Number of Symptoms | 13 |
| OrphanetNr: | 85275 |
| OMIM Id: |
301590
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| ICD-10: |
Q11.2 |
| 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 [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Syndromic microphthalmia -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000315) | Abnormality of the orbital region | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0009755) | Ankyloblepharon | 10 / 7739 | ||||
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(HPO:0011478) | True anophthalmia | 17 / 7739 | ||||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0000528) | Anophthalmia | 42 / 7739 | ||||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0000384) | Preauricular skin tag | 62 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000924) | Abnormality of the skeletal system | 114 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 | ||||
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(OMIM) | Underdeveloped bony orbits | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
In 2 generations of a Northern Ireland family, Graham et al. (1988, 1991) described 7 males with clinical anophthalmia, of whom 3 were deceased at the time of study. The pattern was consistent with X-linked recessive inheritance, and ... |