Pontocerebellar Hypoplasia Type 3
Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.
Genes related to Pontocerebellar Hypoplasia Type 3
Clinical FeaturesTop most frequent phenotypes and symptoms related to Pontocerebellar Hypoplasia Type 3
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
And another 37 symptoms. If you need more information about this disease we can help you.
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.
Pontocerebellar Hypoplasia Type 3 Is also known as pch without dyskinesia, cerebellar atrophy with progressive microcephaly, clam, pch with optic atrophy, pch3.
Researches and researchersCurrently, 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.
Pontocerebellar Hypoplasia Type 3 Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
By Fulgent Genetics Fulgent Genetics (United States).
By Foundation Medicine, Inc. (United States).
BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A , (...)
View the complete list with 374 more genes
You can get up to -6 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM MESH ORPHANET Rare Disease Symptoms Checker
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA HARTSFIELD SYNDROME; HRTFDS HERMANSKY-PUDLAK SYNDROME 2; HPS2