Dwarfism - intellectual deficit - eye abnormality
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MOLLICA SYNDROME Mollica-Pavone-Antener syndrome |
| Number of Symptoms | 19 |
| OrphanetNr: | 2650 |
| OMIM Id: |
223540
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| ICD-10: |
Q87.1 |
| 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 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 |
Symptom Information:
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000315) | Abnormality of the orbital region | 18 / 7739 | ||||
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(HPO:0007676) | Hypoplasia of the iris | 22 / 7739 | ||||
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(HPO:0100018) | Nuclear cataract | 14 / 7739 | ||||
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(HPO:0000545) | Myopia | Frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0011003) | Severe Myopia | 31 / 7739 | ||||
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(HPO:0002353) | EEG abnormality | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0100022) | Abnormality of movement | Occasional [Orphanet] | 129 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0003510) | Severe short stature | 90 / 7739 | ||||
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(HPO:0007587) | Numerous pigmented freckles | Very frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0011362) | Abnormal hair quantity | Occasional [Orphanet] | 92 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Ocular abnormalities | 2 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Mollica et al. (1972) described 2 sisters and a brother with short stature, mental retardation, small head, and ocular abnormalities (iris hypoplasia, nuclear cataracts, severe myopia). Birth weights were not given. The parents, apparently unrelated, were from the ... |