Phenotype #0000357128

Individual ID 00472325
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; birth 40w, torcicollis; weight 83.6kg (SD+0.91), height 197.4cm (SD+2.94); no gross motor delay; speech delay; developmental delay; mild intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (ADHD); no hypotonia; no involuntary movements; no 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, double whorl; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet
Inheritance Isolated (sporadic)
Age/Examination 21.88y
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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