Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal (PHRINL)

Alias:

Phrinl Syndrome

Phrinl

Lethal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome Due to Biallelic Deletions in the Atad3 Gene Cluster

Lethal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome Due to a Point Mutation

Lethal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome

Fatal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome

Fatal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Distress Syndrome

Lethal 1p36.33 Deletion Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal, is also known as phrinl syndrome. An important gene associated with Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal is ATAD3A (ATPase Family AAA Domain Containing 3A). Affiliated tissues include brain and skeletal muscle, and related phenotypes are spasticity and hypotonia

Related ID：

MALACARDS：PNT054

OMIM：618810

MESH：D000015