by Remember The Girls | May 2, 2022
Back to Previous Ocular Albinism Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the...
by Remember The Girls | May 2, 2022
Back to Previous Ohdo Syndrome (X-Linked) Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability (ID) and typical facial features, including blepharophimosis. Clinically, these blepharophimosis-ID syndromes have been...
by Remember The Girls | May 2, 2022
Back to Previous Opitz G/BBB Syndrome (X-Linked) X-linked Opitz G/BBB syndrome (X-OS) is a multiple-congenital-anomaly disorder characterized by facial anomalies (hypertelorism, prominent forehead, widow’s peak, broad nasal bridge, anteverted nares),...
by Remember The Girls | May 2, 2022
Back to Previous OPHN1 Syndrome Affected male patients present moderate to severe intellectual disability, hypotonia, severe developmental delay, early-onset complex partial or tonic-clonic seizures, strabismus, dysmetria and occasionally ataxia. Cryptorchidism and...
by Remember The Girls | May 2, 2022
Back to Previous Ornithine Transcarbamylase Deficiency Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role...
