Phenotype #0000337441

Individual ID 00448231
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite HSAN9
Inheritance Familial, autosomal recessive
Phenotype details intellectual disability; microcephaly; microphthalmia; short stature; dysmorphic facial features; sibling with similar phenotype, deceased at 1 week of age
Age/Examination 4y (4 years)
Age/Diagnosis 4y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-02-23 14:52:21 +01:00 (CET)
Date last edited N/A

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