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| GENATLAS PHENOTYPE |
| last update : 25-10-2019 |
| Symbol | MCAUTS | |
| Location | 10q23.31 | |
| Name | macrocephaly extreme (>4DS) / autism | |
| Corresponding gene | PTEN | |
| Main clinical features | macrocephaly at birth (>98p100), broad forehead, with obvious macrocephaly, mild joint hyperextensibility, deficient eye contact, mild cognitive impairment, autism spectrum disorder, with normal MRI | |
| Genetic determination | autosomal dominant | |
Function/system disorder
| Type
| MCA/MR
| |
| Gene product |
| Name | phosphatase and tensin homolog |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|
| unknown
|
| |
| Remark(s) |
| Genotype/Phenotype correlations |
. R130X nonsense mutation within rexon 5, in the core phosphatase domain, has been found in Cowden syndrome (CS), Bannayan-Ruvalcaba syndrome (BRRS), and CS-BRRS overlap families
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