Phenotype #0000357125

Individual ID 00472322
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; birth 34w; weight 16.6kg (SD-1.34), height 109.9cm (SD-0.36), OFC 48.5cm (SD-2.00); no gross motor delay, 12m-walk; severe speech delay, no sentences; moderate developmental delay; intellectual disability; no epilepsy; no autism; 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; plagiocephaly, prominent forehead, pointy chin; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet
Inheritance Unknown
Age/Examination 5.5y
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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