Phenotype #0000216381

Individual ID 00281803
Associated disease DKCA3
Phenotype details severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; spasticity; reduced upper limb tendon reflexes, reduced lower limb tendon reflexes ; no seizures; MRI-brain focal thinning of corpus callosum, thin pituitary stalk, global brain atrophy; normal skin; no cataract; normal heart; tracheostomy; feeding difficulties, nasogastric tube; normal urinary tract; recurrent fever/frequent viral infections; normal limbs; bushy eyebrows, low anterior hairline; mild hepatomegaly
Diagnosis/Initial neurodevelopmental delay
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 8m
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 2020-02-03 19:33:41 +01:00 (CET)
Date last edited N/A

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