NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures).
|
30245510 |
2019 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures) to non-syndromic hearing loss.
|
30335140 |
2019 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and seizures.
|
27259978 |
2017 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
|
0.150 |
Biomarker
|
disease |
BEFREE |
TBC1D24-related disorders include a wide phenotypic ranging from mild to lethal seizure disorders, non-syndromic deafness, and composite syndromes such as DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures).
|
27541164 |
2016 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic hearing impairment associated with onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS syndrome), and a wide range of epileptic disorders.
|
24729539 |
2014 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
|
0.150 |
Biomarker
|
disease |
HPO |
|
|
|