Microcephaly and chorioretinopathy, autosomal recessive, 1
| Disorder | |
|---|---|
| OMIM #: | #251270 (Click to access OMIM database) |
| Disorder: | Microcephaly and chorioretinopathy, autosomal recessive, 1 |
| Also known as: | MCCRP1 |
| Clinical | |
| Phenotype: | pachygyria, microcephaly, developmental delay, motor delay, cerebral atrophy, chorioretinopathy, retinal detachment, retinal dystrophy |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| ReferencesPuffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 7(1):e28936. PubMed ID: 22279524 1 Old Order Mennonite |
|
| Gene: | TUBGCP6 |
| Base Change: | T>G, at nucleotide 5458 |
| Amino Acid Change: | term 182 --> gly |
| Last updated: | 2023-02-01 |
| References |
|---|
| McKusick VA, Stauffer M, Knox DL, Clark DB. (1966) Chorioretinopathy with hereditary microcephaly. Arch Ophthalmol 75(5):597-600. PubMed ID: 5936364 |
| Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 7(1):e28936. PubMed ID: 22279524 |
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