Phenotype #0000199456

Individual ID 00260923
Associated disease DD
Phenotype details developmental delay, microcephaly, cMRI: simplified gyral pattern; not able to sit; not walking; no functional hand use; no speech; no stereotypic movements; hypotonia; strabism; no nystagmus; abnormal sleep patterns; good eye contact; no seizures; G-Tube feeding; gastroesophageal reflux; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies
Diagnosis/Initial developmental delay
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 30m
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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