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Ontology Browser

Term:
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 (DOID:9000999)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2  
A severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy.
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3  

Synonyms
Exact Synonyms: HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME ;   IHPRF2 ;   UNC80-RELATED DISORDER
Primary IDs: OMIM:616801
Definition Sources: OMIM:616801

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