Phenotype #0000199457

Individual ID 00260924
Associated disease DD
Phenotype details developmental delay, hypotonia, strabism, epilepsy; 11m-unassisted sitting; 30m-walking; assisted walking; functional hand use; 33m-started expressive speech, 100 words; no stereotypic movements; no dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; no abnormal sleep patterns; good social interaction; good eye contact; no unexplained episodes of crying; 24m-onset epileptic seizures; seizures; focal seizures; good antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies
Diagnosis/Initial developmental delay
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 82m
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 2019-08-09 15:48:35 +02:00 (CEST)
Date last edited N/A

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