Intellectual deficit, X-linked, Pai type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 18 |
| OrphanetNr: | 85322 |
| 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:
| Prevalence: | 1 family [Orphanet] |
| Inheritance: |
X-linked 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 X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000045) | Abnormality of the scrotum | Occasional [Orphanet] | 14 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
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(HPO:0000286) | Epicanthus | Occasional [Orphanet] | 371 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Occasional [Orphanet] | 188 / 7739 | |||
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(HPO:0000426) | Prominent nasal bridge | Occasional [Orphanet] | 121 / 7739 | |||
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(HPO:0000411) | Protruding ear | Occasional [Orphanet] | 140 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Occasional [Orphanet] | 318 / 7739 | |||
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(HPO:0001276) | Hypertonia | Occasional [Orphanet] | 317 / 7739 | |||
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(HPO:0011442) | Abnormality of central motor function | Occasional [Orphanet] | 76 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001182) | Tapered finger | Occasional [Orphanet] | 93 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | Occasional [Orphanet] | 250 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Occasional [Orphanet] | 176 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0001522) | Death in infancy | Frequent [Orphanet] | 275 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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