Phenotype #0000357133

Individual ID 00472330
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; birth 38w, respiratory difficulty; weight 10.9kg (SD+0.46), height 72. 5cm (SD-1.10), OFC 47cm (SD+0.50); gross motor delay, 1y-sit; speech delay, 1y-no words or babble; moderate developmental delay; no epilepsy; hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 4m-MRI brain thinning of the corpus callosum, enlarged third and lateral ventricles; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; broad long forehead; normal ears; deep set eyes; short nose with flattened tip, small mouth with cupid's bow, pointy chin, jowly cheeks; normal hands/feet
Inheritance Unknown
Age/Examination 1y (1 year)
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 2026-02-03 11:21:20 +01:00 (CET)
Date last edited N/A

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