As a result, one or more of the parent’s children may inherit the gene mutation, potentially leading to manifestation of the disorder, while the parent may have no apparent symptoms (asymptomatic carrier). [rarediseases.org]

puberty, scoliosis, hip dysplasia Usual onset conception Types type 1 (KMT2D), type 2 (KDM6A); other rare mutations unrecognized for now Causes loss-of-function mutations in KMT2D or KDM6A genes Diagnostic method clinical findings; genetic testing Frequency [en.wikipedia.org]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. The classic symptoms of Conradi-Hünermann syndrome involved the skeleton, skin and eyes. [rarediseases.org]

Affected infants may fail to grow and gain weight at the rate expected for age and gender (failure to thrive). Growth deficiencies may ultimately result in a final adult height that is below normal (short stature). [rarediseases.org]

Although the eruption usually resolves during infancy, older children may subsequently develop inflammation and wasting (atrophy) of follicles (follicular atrophoderma), causing pores to appear unusually large. [rarediseases.org]

Cataracts can caused blurred vision or decreased clarity of vision. [rarediseases.org]

Neuro na l intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Eur J Hum Genet 2002;10:(Suppl1):63 39. He}imovi} S, Bari{i} I, Muller A i sur. Expand Long PCR for fragile X mutation detection. [yumpu.com]