Phenotype #0000280746

Individual ID 00386948
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details see paper; ..., height 133 cm (25%ile), OFC 46 cm (-7 SD); severe intellectual disability (HP:0010864); speech delay, slurred speech; microcephaly; no epilepsy; short temper, aggressive; strabismus; narrow nasal base, broad nasal ridge; long philtrum and thin upper lip; large ears; unbalanced gait
Age/Examination 10y (10 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 08:59:14 +02:00 (CEST)
Date last edited N/A

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