Results 1 -
10
of
19
for
robinson "syndrome," autosomal recessive
- ... pterygium syndrome Genetic Testing Registry: Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome National ...
- ... related heart abnormalities, but their hearing is normal. Autosomal recessive long QT syndrome (LQTS) Cardio-auditory-syncope syndrome Cardioauditory syndrome of ...
- ... Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur J Hum Genet. 2008 Oct;16(10): ... Brancati F. De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am J ...
- ... feature of primary ciliary dyskinesia, it has an autosomal recessive pattern of inheritance. Heterotaxy HTX Ivemark syndrome Left isomerism Right isomerism Situs ambiguus Situs ambiguus ...
- ... to be the same disorder as Donnai-Barrow syndrome. LRP2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... other features of FBXL4-related encephalomyopathic mtDNA depletion syndrome. FBXL4 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... other signs and symptoms of multiple mitochondrial dysfunctions syndrome. In some affected individuals, impairment of the glycine cleavage system leads to a buildup of glycine. BOLA3 NFU1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, ... Genetic Testing ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Immotile cilia syndrome PCD Genetic Testing Registry: Primary ciliary dyskinesia Genetic ...
- ... combined pituitary hormone deficiency are inherited in an autosomal recessive pattern. ... loss-spine abnormalities syndrome Pituitary hormone deficiency, combined 1 Short stature-pituitary ...
