Phenotype #0000074196

Individual ID 00095913
Associated disease NDHSAL
Phenotype details developmental delay (HP:0001263), intellectual disability (HP:0001249), hypotonia (HP:0001252), sit unable, infantile spasms starting ∼5 m (few months seizure free), rno abnormal behaviours, cortical visual impairment, MRI-brain cerebral atrophy, thin corpus callosum, G-tube fed, sparse eyebrows, slightly depressed nasal bridge, upturned nasal tip, hyperglutaminaemia, scrotal hypoplasia, pectus excavatum
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 03y (3 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 2017-01-23 08:28:38 +01:00 (CET)
Date last edited N/A

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