Phenotype #0000106413

Individual ID 00133664
Associated disease PCH9
Phenotype details Microcephaly (HP:0000252), cerebellar hypoplasia (HP:0001321), hypoplasia of the pons (HP:0012110), hypoplasia of the corpus callosum (HP:0007370), hypoplasia of the brainstem (HP:0007362), motor delay (HP:0001270), intellectual disability, profound (HP:0002187), spasticity (HP:0001257), tonic seizures (HP:0011167)
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 15:20:49 +01:00 (CET)
Date last edited 2017-11-30 11:05:42 +01:00 (CET)

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