Phenotype #0000319017

Individual ID 00428071
Associated disease NDD
Diagnosis/Initial neurodevelopmental dealy
Diagnosis/Definite -
Phenotype details brith 39w, weight 3.07 kg (28th%ile, Z score -0.58), length 53.3 cm (96th%ile, Z score +1.8), OFC 35 cm (66th%ile, Z score +0.42); delayed speech development; delayed gross motor development; delayed fine motor milestones; global developmental delay; Lennox Gastaut syndrome with tonic seizures and atypical absence seizures; diffuse hypotonia; MRI brain decreased volume of corpus callosum, small anterior commissure, subtle interdigitation of the inferomedial frontal gyri; no behavior abnormalities; no failure to thrive; feeding problems; dysmotility, dysphagia, constipation; no hypoventilation; bilateral exotropia; no hearing impairment; relative macrocephaly; congenital penile chordee with phimosis; episodes of dysautonomic storm
Inheritance Isolated (sporadic)
Age/Examination 4y (4 years)
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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