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Developmental cataract
- ... include clouding of the lenses of the eyes (cataracts), developmental delay, or intellectual disability.The ALDH18A1 gene variants ...
- ... D, Chandler D, Thomas PK, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter. Eur J ...
- ... deteriorate during the first months of life, and cataracts (cloudiness in the lens ... experience developmental delays in motor skills such as sitting up ...
- ... of the lenses of the eyes (cataracts). The cataracts are apparent at birth ... milestones such as sitting without support, feeding themselves, ...
- ... or clouding of the lens of the eye (cataract). In addition, some people have breakdown (degeneration) of ... ADVIRC Vitreoretinochoroidopathy dominant Vitreoretinochoroidopathy with microcornea, glaucoma, and cataract ... Genetic Testing Registry: ...
- ... experience clouding of the lenses of the eyes (cataracts) or other eye abnormalities, which may reduce their ... and symptoms of the condition. Absent corpus callosum cataract immunodeficiency Corpus callosum agenesis-cataract-immunodeficiency syndrome Dionisi ...
- ... Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction. JAMA Ophthalmol. 2016 Sep ... sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013 Jul 4;122(1): ...
- ... include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control ... adulthood. Affected individuals typically have mild myotonia and cataracts. Congenital myotonic dystrophy is often apparent at birth. ...
- ... including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed ... Rare Disorders (NORD) ClinicalTrials.gov MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR MICROPHTHALMIA/ ...
- ... as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary ... a pregnancy to term. Intellectual disability and other developmental delays are also common in people with WAGR ...