Phenotype #0000274951

Individual ID	00381100
Associated disease	anemia, megaloblastic
Phenotype details	(+) Urinary retention,(+) Eczema,(+) Spasticity,(+) Global developmental delay,(+) Flexion contracture,(+) Talipes equinovalgus,(+) Talipes,(+) Constipation,(+) Lower limb spasticity,(+) Cerebral calcification,(+) Scoliosis,(+) Thoracolumbar scoliosis,(+) Limb joint contracture,(+) Abnormal hip bone morphology,(+) Abdominal symptom,(+) Abnormality of folate metabolism,(+) Chronic constipation,(+) Abnormality of digestive system physiology,(+) Abdominal cramps,(+) Flatulence,(+) Contractures of the joints of the upper limbs
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Andreas Laner
Database submission license
Created by	Andreas Laner
Date created	2021-08-26 07:58:53 +02:00 (CEST)
Date last edited	2021-08-27 14:27:03 +02:00 (CEST)

Global Variome shared LOVD