Intellectual developmental disorder, autosomal recessive 41
| Disorder | |
|---|---|
| OMIM #: | #615637 (Click to access OMIM database) |
| Disorder: | Intellectual developmental disorder, autosomal recessive 41 |
| Also known as: | MRT41 |
| Clinical | |
| Phenotype: | mild-sever developmental delay, motor delay, anxiety, stereotyped behavior, dysmorphic features include macrocephaly, frontal bossing, craniosynostosis, scaphocephaly, broad nasal bridge, hooded eyelids with small, downslanting palpebral fissures, prominent chin, seizure disorder, hypotonia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | KPTN |
| Base Change: | C>A, at nucleotide 776 |
| Amino Acid Change: | ser 259 --> term |
| 2 Amish | |
| Gene: | KPTN |
| Base Change: | c.714_731dup18 |
| Amino Acid Change: | p.Met241_Gln246dup |
| Last updated: | 2023-02-02 |
| References |
|---|
| Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH. (2014) Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. Am J Hum Genet Jan 2;94(1):87-94. PubMed ID: 24239382 |
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