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Intellectual "disability," autosomal dominant 1
- ... microduplication syndrome MAND MBD5 haploinsufficiency Genetic Testing Registry: Intellectual disability, autosomal dominant 1 National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
- ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Autosomal dominant osteopetrosis is the most common form of the disorder, affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is ...
- ... PRKAB2 1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms.In at least ...
- ... an altered protein that results in impaired Kv2.1 channel function. As a result, the channels cannot ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 Intellectual developmental disorder, autosomal dominant 5 National ...
- ... retardation, autosomal dominant 43 MRD43 Genetic Testing Registry: Intellectual disability, autosomal dominant 43 Intellectual developmental disorder, autosomal dominant 43 National ...
- ... Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant 6 National Organization for Rare Disorders (NORD) DEVELOPMENTAL ...
- ... intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Autosomal dominant intellectual disability 25 XGS Genetic Testing Registry: AHDC1-related intellectual ...
- ... disability and other neurological features of PPP2R5D-related intellectual disability. PPP2R5D This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... sperm) or in early embryonic development. Mental retardation, autosomal dominant 37 MRD37 WHSUS Genetic Testing Registry: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome National Organization for ...
