Phenotype #0000321971

Individual ID 00431377
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; anxiety, hyperactivity; no neurological features; long face, exophoria, prognathism, everted lower lip, anteverted floppy ears; kyphoscoliosis, pes planus, long and slender fingers and toes, late puberty; MRI brain posterior white matter hyperintensity
Age/Examination 18y (18 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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