Disease #03459 (anemia, megaloblastic (anemia, megaloblastic, due to dihydrofolate reductase deficiency), OMIM:613839)

Official abbreviation anemia, megaloblastic
Name anemia, megaloblastic, due to dihydrofolate reductase deficiency
OMIM ID 613839
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene DHFR
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-09-28 15:32:07 +02:00 (CEST)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00381100 181783 - - F ? Germany - - - - - anemia, megaloblastic (+) 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 DHFR DHFR 1 1 Andreas Laner
00436672 two neonatal death siblings - - - no China - 00y00m40d - - - anemia, megaloblastic - DHFR DHFR 2 1 Min Peng
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