Phenotype #0000357150

Individual ID 00472347
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; ..., gross motor delay; speech delay; mild-moderate intellectual disability; no autistic features; no seizures; normal spine; no sleep disturbance; no facial dysmorphism; strabismus; normal ears; normal nose; normal mouth; no precocious puberty; no congenital heart defects; no gastrointestinal anomalies; asthma; pyramidal syndrome
Inheritance Isolated (sporadic)
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 12:00:08 +01:00 (CET)
Date last edited N/A

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