Phenotype #0000357132

Individual ID 00472329
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; birth 40w; weight 23.4kg (SD+1.50), height 114cm (SD+1.28), OFC 50cm (SD-0.22); no gross motor delay; severe speech delay, 5y-no sentences; moderate developmental delay; no epilepsy; autism traits (ASD); no behavioral issues; no hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet
Inheritance Unknown
Age/Examination 5y (5 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 2026-02-03 11:21:20 +01:00 (CET)
Date last edited N/A

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