Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 24 |
| OrphanetNr: | 3044 |
| OMIM Id: |
249599
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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: | 4 cases [Orphanet] |
| Inheritance: |
Unknown [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 |
Symptom Information:
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(HPO:0008734) | Decreased testicular size | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0000815) | Hypergonadotropic hypogonadism | 48 / 7739 | ||||
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(HPO:0000446) | Narrow nasal bridge | Very frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0000303) | Mandibular prognathia | Very frequent [Orphanet] | 179 / 7739 | |||
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(HPO:0000445) | Wide nose | 190 / 7739 | ||||
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(HPO:0000490) | Deeply set eye | Very frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0000276) | Long face | Very frequent [Orphanet] | 109 / 7739 | |||
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(HPO:0005105) | Abnormal nasal morphology | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0003191) | Cleft ala nasi | 8 / 7739 | ||||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002342) | Intellectual disability, moderate | 37 / 7739 | ||||
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(HPO:0000819) | Diabetes mellitus | 131 / 7739 | ||||
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(HPO:0100651) | Type I diabetes mellitus | Very frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000774) | Narrow chest | Very frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0100818) | Long thorax | Very frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0003782) | Eunuchoid habitus | Very frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | Frequent [Orphanet] | 281 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Coloboma of alae nasi | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Narrow-based broad nose | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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