Phenotype #0000270796

Individual ID	00375582
Associated disease	?
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth OFC 35cm, weight 3.1kg, length 50cm; OFC 39.5cm (−6 SD), weight 6.5kg (−3 SD), length 85cm; 32m-died from status epilepticus; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); no dysgenesis of corpus callosum (-HP:0006989); no CNS hypomyelition (-HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (focal, pharmacoresistant); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); no elevated c-reactive protein level (-HP:0011227); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no abdomil distention (-HP:0003270); muscular spasticity (HP:0001257); no hepatomegaly (-HP:0002240)
Inheritance	Familial, autosomal recessive
Age/Examination	18m
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-06-11 23:06:52 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD