Phenotype #0000257465

Individual ID 00362052
Associated disease ?
Diagnosis/Initial hypotonia, poor feeding
Diagnosis/Definite -
Phenotype details hypotonia, poor feeding; height, weight, and OFC all below 0.3rd percentile; deep-set eyes; vesicoureteric reflux, recurrent urinary-tract infections, neurogenic bladder, constipation; gait ataxia; no truncal ataxia; hypotonia; dysarthria; no tremor (postural, intention); single febrile seizure; no microcephaly; no nystagmus; no saccadic abnormalities; no jerky eye movements; strabismus; 12m-sit; 32m-walk; 40 single words by 3 years; speech sentences, some echolalia; special school; normal behavior; MRI brain subtle dysplasia cerebellar cortex
Inheritance Isolated (sporadic)
Age/Examination 8y5m (8 years, 5 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-04-15 11:18:09 +02:00 (CEST)
Date last edited N/A

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