Phenotype #0000319009

Individual ID 00428063
Associated disease NDD
Diagnosis/Initial neurodevelopmental dealy
Diagnosis/Definite -
Phenotype details delayed speech development; normal gross motor development; normal fine motor milestones; mild intellectual disability; no seizures; no autism; hypotonia; no behavior abnormalities; no failure to thrive; no feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; microcephaly, short stature; no congenital anomalies; ataxia
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2022-12-21 10:47:09 +01:00 (CET)
Date last edited N/A

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