Phenotype #0000321967

Individual ID 00431373
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details birth weight/length/OFC normal; weight/height/OFC normal; motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), no speech; no behavioral problems; no neurological features; coarse facies, synophrys, epicanthus, broad nasal root, smooth philtrum big mouth; ichthyosis
Age/Examination 6y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Fernanda Soledad Jalil
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-10-14 11:22:32 +02:00 (CEST)
Date last edited N/A

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