- ... gov Catalog of Genes and Diseases from OMIM SEGAWA SYNDROME, AUTOSOMAL RECESSIVE Scientific Articles on PubMed PubMed References Furukawa Y, ...
- ... 3, see Costeff syndrome Autosomal recessive primary microcephaly Autosomal recessive Segawa syndrome, see Tyrosine hydroxylase deficiency Autosomal recessive sensorineural hearing ...
- ... Tyrosine hydroxylase deficiency</title><other_names ><other_name >Autosomal recessive Segawa syndrome</other_name><other_name >Autosomal recessive dopa-responsive ...
- ... and Diseases from OMIM DYSTONIA, DOPA-RESPONSIVE; DRD SEGAWA SYNDROME, AUTOSOMAL RECESSIVE DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY ...
- ... in own window 191290 TYROSINE HYDROXYLASE; TH 605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE Molecular Pathogenesis Tyrosine hydroxylase (TH) (tyrosine 3-monooxygenase) ...
- ... synonym><synonym >Autosomal recessive infantile parkinsonism</synonym><synonym >Autosomal recessive Segawa syndrome</synonym><synonym >DYT5b</synonym><synonym >TH deficiency</synonym>< ...
- ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive ... as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy ... dentition, and hypomyelination Dentoleukoencephalopathy HCAHC ...
- ... scoliosis. Genetic counseling. FCMD is inherited in an autosomal recessive manner. At conception, each sib of an affected ... rosettes of immature photoreceptors. Family history consistent with autosomal recessive inheritance Neuroimaging findings. MRI reveals the findings of ...
- ... deficiency. Genetic counseling. SRD is inherited in an autosomal recessive manner. At conception, each sib of an affected ... Inheritance Sepiapterin reductase deficiency is inherited in an autosomal recessive manner. Risk to Family Members Parents of a ...
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