Phenotype #0000280747

Individual ID 00386949
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details see paper; ..., height 95 cm (3%ile), OFC 44 cm(-8 SD); severe intellectual disability (HP:0010864); microcephaly; seizure; short temper, aggressive; strabismus; narrow nasal base, broad nasal ridge; long philtrum and thin upper lip; normal ear shape; no vestibular deficit
Age/Examination 05y (5 years)
Age/Diagnosis -
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 2021-10-28 09:05:05 +02:00 (CEST)
Date last edited N/A

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