HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 39 |
| OrphanetNr: | |
| OMIM Id: |
609943
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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: | No data available. |
| Inheritance: |
Sporadic [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000154) | Wide mouth | 137 / 7739 | ||||
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(HPO:0000581) | Blepharophimosis | 197 / 7739 | ||||
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(HPO:0000331) | Short chin | 33 / 7739 | ||||
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(HPO:0002162) | Low posterior hairline | 88 / 7739 | ||||
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(HPO:0000294) | Low anterior hairline | 52 / 7739 | ||||
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(HPO:0000232) | Everted lower lip vermilion | 90 / 7739 | ||||
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(HPO:0000187) | Broad alveolar ridges | 14 / 7739 | ||||
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(HPO:0000582) | Upslanted palpebral fissure | 185 / 7739 | ||||
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(HPO:0000455) | Broad nasal tip | 67 / 7739 | ||||
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(HPO:0002553) | Highly arched eyebrow | 92 / 7739 | ||||
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(HPO:0000322) | Short philtrum | 130 / 7739 | ||||
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(HPO:0000574) | Thick eyebrow | 96 / 7739 | ||||
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(HPO:0000212) | Gingival overgrowth | 43 / 7739 | ||||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0000377) | Abnormality of the pinna | 111 / 7739 | ||||
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(HPO:0000718) | Aggressive behavior | 109 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001212) | Prominent fingertip pads | 12 / 7739 | ||||
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(HPO:0001769) | Broad foot | 31 / 7739 | ||||
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(HPO:0000958) | Dry skin | 152 / 7739 | ||||
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(HPO:0000962) | Hyperkeratosis | 216 / 7739 | ||||
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(HPO:0000998) | Hypertrichosis | 52 / 7739 | ||||
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(HPO:0002208) | Coarse hair | 58 / 7739 | ||||
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(HPO:0004554) | Generalized hypertrichosis | 30 / 7739 | ||||
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(HPO:0002230) | Generalized hirsutism | 32 / 7739 | ||||
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(HPO:0001007) | Hirsutism | 91 / 7739 | ||||
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(HPO:0100874) | Thick hair | 7 / 7739 | ||||
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(OMIM) | Thick, arched eyebrows | 1 / 7739 | ||||
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(MedDRA:10065954) | Stubbornness | 5 / 7739 | ||||
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(HPO:0200012) | Short corpus callosum | 1 / 7739 | ||||
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(OMIM) | Hyperkeratotic plaques | 2 / 7739 | ||||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(OMIM) | Broad finger tips | 2 / 7739 | ||||
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(HPO:0012745) | Short palpebral fissure | 47 / 7739 | ||||
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(OMIM) | Thick, short corpus callosum | 1 / 7739 | ||||
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(HPO:0007099) | Arnold-Chiari type I malformation | 18 / 7739 | ||||
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(OMIM) | Mental retardation, mild to moderate | 33 / 7739 | ||||
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(HPO:0007074) | Thick corpus callosum | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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