Phenotype #0000106412

Individual ID 00133663
Associated disease PCH9
Phenotype details Postnatal microcephaly (HP:0005484), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), abnormality of brainstem morphology (HP:0002363), motor delay (HP:0001270), muscular hypotonia of the trunk (HP:0008936),intellectual disability (HP:0001249), opisthotonus (HP:0002179),
Aplasia/Hypoplasia of the corpus callosum (HP:0007370), visual impairment (HP:0000505)
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 2017-11-16 15:03:06 +01:00 (CET)
Date last edited 2017-11-30 11:07:35 +01:00 (CET)

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