Phenotype #0000357136

Individual ID 00472333
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDDFAC
Phenotype details see paper; birth 32w; weight 51.5kg (SD+2.77), height 132cm (SD-0.15), OFC 52cm (SD+0.15); severe gross motor delay, 2y6m-walk; severe speech delay, now speking full sentences; severe developmental delay; moderate intellectual disability; no epilepsy; autism traits (ASD); no behavioral issues; hypotonia; no involuntary movements; no sleep disturbance; myopia; sensorineural, unilateral hearing loss; no feeding issues, no swallowing issues; 3y-MRI brain enlarged ventricles, mild hypoplasia superior vermis, mega cysterna magna without molar tooth; fatty liver; no congenital heart defects; 8y-precocious puberty with advanced skeletal maturity; scoliosis; dolichocephaly, bitemporal narrowing, long face, pointed chin, midface hypoplasia; normal ears; normal eyes; tented mouth, high palate; clinodactyly hands; hyperpigmentation on one thigh
Inheritance Isolated (sporadic)
Age/Examination 9.16y
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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