Microcephaly 16, Primary, Autosomal Recessive; Mcph16
Table of contents:
Genes related to Microcephaly 16, Primary, Autosomal Recessive; Mcph16
- ANKLE2
Clinical Features
Top most frequent phenotypes and symptoms related to Microcephaly 16, Primary, Autosomal Recessive; Mcph16
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
- Micrognathia
- Cryptorchidism
- Spasticity
- Ptosis
- Anemia
- Flexion contracture
And another 15 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Microcephaly 16, Primary, Autosomal Recessive; Mcph16 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 ANKLE2.
By Fulgent Genetics Fulgent Genetics (United States).
ANKLE2
Specificity
100 %
Genes
100 % |
 Microcephaly primary autosomal recessive.
By Laboratorio de Genetica Clinica SL (Spain).
STIL, CENPJ, CDK6, CDK5RAP2, ASPM, CIT, KNL1, WDR62, SASS6, CEP63, MFSD2A, CEP135, ANKLE2, CEP152, PHC1, MCPH1
Specificity
7 %
Genes
100 % |
You can get up to -6 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14 CAPILLARY MALFORMATIONS, CONGENITAL; CMC ALSTROM SYNDROME; ALMS MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 ACHONDROGENESIS, TYPE II; ACG2 BURKITT LYMPHOMA; BL ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1