Phenotype #0000270816

Individual ID	00375602
Associated disease	?
Diagnosis/Initial	multisystem disorder, recurring autoinflammation
Diagnosis/Definite	-
Phenotype details	alive; uncomplicated pregnancy; birth normal measurements, OFC 37cm, weight 4250g, length 57cm; muscular hypotonia; developmental delay; no dystrophy; postnatal short stature (3rd-10th percentile); progredient microcephaly; Dandy Walker variant, optic hypoplasia, frontotemporal atrophy, hypomyelination, thin corpus callosum; no seizures; no eye anomalies; elevated transaminases; no cardiac anomalies; no inflammatory arthritis; muscle hypertonia
Inheritance	Familial, autosomal recessive
Age/Examination	1y3m (1 year, 3 months)
Age/Diagnosis	-
Age/Onset	4m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-06-12 22:50:35 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD