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loading...| Preferred Name |
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS |
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| Synonyms |
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| ID |
http://purl.bioontology.org/ontology/OMIM/148350 |
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| cui |
C1835672 |
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| Gene Locus |
13q11-q12 |
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| Gene Symbol |
GJB2 BAPS PPK DFNA3A CX26 HID KID DFNB1A |
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| Has manifestation | ||
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
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| notation |
148350 |
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| OMIM Entry Type |
3 |
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| OMIM MimType Value |
pound |
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| prefLabel |
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS |
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| Scope Statement |
Caused by mutation in the gap junction protein, beta-2, 26kD gene (GJB2, 121011.0015) [MOLECULAR BASIS] Allelic to deafness, autosomal recessive 1, (220290), deafness, autosomal dominant 3, (601544), Vohwinkel syndrome, (124500), keratitis-ichthyosis-deafness syndrome, (148210), hystrix-like ichthyosis with deafness, (602540), Bart-Pumphrey syndrome, (149200) [MISCELLANEOUS] Caused by mutation in the mitochondrial transfer RNA, mitochondrial, serine, 1 gene (MTTS1, 590080.0002) [MOLECULAR BASIS] |
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| tui |
T047 |
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