Autosomal dominant nonsyndromic intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 42 |
| OrphanetNr: | 178469 |
| OMIM Id: |
156200
612580 612581 612621 613970 614104 614113 614254 614255 614256 614257 614563 615075 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare intellectual deficit without developmental anomaly
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000574) | Thick eyebrow | 96 / 7739 | ||||
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(HPO:0000414) | Bulbous nose | 63 / 7739 | ||||
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(HPO:0000687) | Widely spaced teeth | 40 / 7739 | ||||
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(HPO:0000178) | Abnormality of lower lip | 1 / 7739 | ||||
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(HPO:0000154) | Wide mouth | 137 / 7739 | ||||
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(HPO:0000337) | Broad forehead | 116 / 7739 | ||||
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(HPO:0002714) | Downturned corners of mouth | 98 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000448) | Prominent nose | 56 / 7739 | ||||
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(HPO:0002553) | Highly arched eyebrow | 92 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0000278) | Retrognathia | 100 / 7739 | ||||
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(HPO:0000219) | Thin upper lip vermilion | 112 / 7739 | ||||
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(HPO:0000331) | Short chin | 33 / 7739 | ||||
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(HPO:0000194) | Open mouth | 70 / 7739 | ||||
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(HPO:0000545) | Myopia | 286 / 7739 | ||||
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(HPO:0000565) | Esotropia | 58 / 7739 | ||||
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(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
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(HPO:0000540) | Hypermetropia | 99 / 7739 | ||||
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(HPO:0000483) | Astigmatism | 67 / 7739 | ||||
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(HPO:0000378) | Cupped ear | 34 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0000411) | Protruding ear | 140 / 7739 | ||||
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(HPO:0002591) | Polyphagia | 25 / 7739 | ||||
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(HPO:0000718) | Aggressive behavior | 109 / 7739 | ||||
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(HPO:0002463) | Language impairment | 15 / 7739 | ||||
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(HPO:0100716) | Self-injurious behavior | 43 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000736) | Short attention span | 16 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0002373) | Febrile seizures | 37 / 7739 | ||||
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(HPO:0200055) | Small hand | 71 / 7739 | ||||
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(HPO:0001773) | Short foot | 86 / 7739 | ||||
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(HPO:0001852) | Sandal gap | 63 / 7739 | ||||
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0008897) | Postnatal growth retardation | 113 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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