Phenotype #0000357149

Individual ID 00472346
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; ..., gross motor delay; no speech (non-verbal); severe intellectual disability; autistic features; no seizures; normal spine; sleep disturbance; no facial dysmorphism; down-slanting palpebral fissures; normal ears; broad nasal bridge; bifid uvula, prominent cupid’s bow; tapered fingers; precocious puberty; no congenital heart defects; history of feeding difficulties
Inheritance Isolated (sporadic)
Age/Examination 12y (12 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 12:00:08 +01:00 (CET)
Date last edited N/A

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