Non-syndromic intellectual disability, autism, and gait disturbance
| Disorder | |
|---|---|
| OMIM #: | #615516 (Click to access OMIM database) |
| Disorder: | Non-syndromic intellectual disability, autism, and gait disturbance |
| Also known as: | Intellectual developmental disorder, autosomal recessive 38 (MRT38) Global Developmental Delay and Autism Spectrum Disorder |
| Clinical | |
| Phenotype: | autism spectrum, developmental delay, motor delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| ReferencesPuffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA. (2012) A Homozygous Missense Mutation in HERC2 Associated with Global Developmental Delay and Autism Spectrum Disorder. Hum Mutat 33(12):1639-46. PubMed ID: 23065719 1 Amish, Old Order Mennonite |
|
| Gene: | HERC2 |
| Base Change: | C>T, at nucleotide 1781 |
| Amino Acid Change: | pro 594 --> leu |
| Last updated: | 2022-11-11 |
| References |
|---|
| Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH. (2013) Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet Feb;50(2):65-73. PubMed ID: 23243086 |
| Puffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA. (2012) A Homozygous Missense Mutation in HERC2 Associated with Global Developmental Delay and Autism Spectrum Disorder. Hum Mutat 33(12):1639-46. PubMed ID: 23065719 |
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