Phenotype #0000115942

Individual ID 00133645
Associated disease PCH9
Phenotype details Postnatal microcephaly (HP:0005484), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), partial agenesis of the corpus callosum (HP:0001338), abnormality of brainstem morphology (HP:0002363), motor delay (HP:0001270), muscular hypotonia of the trunk (HP:0008936), apnea (HP:0002104), intellectual disability, profound (HP:0002187), spasticity (HP:0001257)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Fanny Kortüm
Database submission license No license selected
Created by Fanny Kortüm
Date created 2017-11-29 13:09:05 +01:00 (CET)
Date last edited 2017-11-30 11:06:09 +01:00 (CET)

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