Phenotype #0000199454

Individual ID 00260921
Associated disease DD
Phenotype details severe developmental delay, neonatal hypotonia, poor eye contact, impaired social interaction, microcephaly, cMRI: corpus callosum anomaly, septooptic dysplasia; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; seizures; antiepileptic treatment response; feeding difficulties; constipation; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies
Diagnosis/Initial developmental delay
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 45m
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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