Results 11 -
20
of
75
for
Autosomal anomaly
- ... same family.Whether sporadic or inherited, when Peters anomaly is caused by mutations in the CYP1B1 gene, it follows an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means ...
- ... defects, multiple types, 6 Genetic Testing Registry: Ebstein anomaly Genetic Testing Registry: Hypoplastic left heart syndrome Genetic Testing Registry: Heterotaxy, visceral, 2, autosomal Genetic Testing Registry: Hypoplastic left heart syndrome 2 ...
- ... FOXC1 PITX2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. ARS Axenfeld and Rieger anomaly Axenfeld anomaly Axenfeld syndrome AXRA AXRS Rieger anomaly ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy ... skeletal anomalies, and mental retardation syndrome Pascual-Castroviejo syndrome TMCO1 ...
- ... conditions. WT1 ... and pseudohermaphroditism Genetic Testing Registry: Drash ...
- ... the condition appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no associated genes have been found. Poland anomaly Poland sequence Poland syndactyly Poland's anomaly Poland' ...
- ... POGLUT1 PSENEN ... Reticular pigmented anomaly of flexures Genetic ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they ... Registry: Eosinophil peroxidase deficiency Eosinophil peroxidase ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry ... with limb anomalies Anophthalmos-limb anomalies syndrome Microphthalmia with limb anomalies ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of ... syndrome Peters anomaly-short limb dwarfism syndrome Peters' plus syndrome Peters'- ...
