2. Biology Dictionary
  3. PEHO-like syndrome

PEHO-like syndrome

Definition:

PEHO syndrome [DS:H02252] is a rare hereditary disease comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Cases lacking either optic atrophy or cerebellar hypoplasia are often termed PEHO-like syndrome. A homozygous frameshift mutation in CCDC88A has been identified in affected individuals.

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #
Molarity Calculator
Dilution Calculator
Signaling Pathways