Phenotype #0000357134

Individual ID 00472331
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; birth 40w; weight 67.9kg (SD+0.58), height 153.7cm (SD-2.22), OFC 55cm (SD-0.07); mild gross motor delay, 15m-walk; severe speech delay, no sentences; moderate developmental delay; mild intellectual disability; no epilepsy; no autism; behavioral issues (ADD/ADHD); no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 11y-16y-MRI brain, Rathke's cleft cyst; no gastrointestinal/genitourinary issues; no congenital heart defects; short stature, growth hormone deficiency; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; short hands with thick short finger
Inheritance Isolated (sporadic)
Age/Examination 16y (16 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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