Shoulder and girdle defects - familial intellectual deficit
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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14
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OrphanetNr:
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2580
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OMIM Id:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease
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1
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(HPO:0000664)
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Synophrys |
Frequent [Orphanet]
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112 / 7739
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2
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(HPO:0000308)
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Microretrognathia |
Frequent [Orphanet]
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78 / 7739
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3
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(HPO:0000322)
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Short philtrum |
Frequent [Orphanet]
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130 / 7739
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4
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(HPO:0002162)
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Low posterior hairline |
Frequent [Orphanet]
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88 / 7739
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5
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(HPO:0000574)
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Thick eyebrow |
Frequent [Orphanet]
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96 / 7739
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6
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(HPO:0010650)
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Hypoplasia of the premaxilla |
Frequent [Orphanet]
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39 / 7739
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7
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(HPO:0002353)
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EEG abnormality |
Frequent [Orphanet]
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188 / 7739
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8
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(HPO:0001163)
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Abnormality of the metacarpal bones |
Frequent [Orphanet]
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149 / 7739
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9
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(HPO:0000912)
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Sprengel anomaly |
Very frequent [Orphanet]
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51 / 7739
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10
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(HPO:0009751)
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Aplasia of the pectoralis major muscle |
Very frequent [Orphanet]
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8 / 7739
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11
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(HPO:0004322)
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Short stature |
Frequent [Orphanet]
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1232 / 7739
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12
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(HPO:0002208)
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Coarse hair |
Frequent [Orphanet]
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58 / 7739
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13
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(HPO:0003202)
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Skeletal muscle atrophy |
Very frequent [Orphanet]
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281 / 7739
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14
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |