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Intellectual "disability," autosomal dominant 39
- ... 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 ...
- ... affected children are much more likely to have intellectual disability, developmental delay, and learning ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... and development and synaptic plasticity, leading to macrocephaly, intellectual disability, seizures, and other ... syndrome follows an autosomal dominant inheritance pattern, which means one copy of the ...
- ... Citation on PubMed Baulac S. Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. Prog Brain Res. 2014;213:123-39. doi: 10.1016/B978-0-444-63326-2. ...
- Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy/Specifics ... Muscular Dystrophy ... MDA is the #1 health nonprofit ...
- ... condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first ... birth. Abnormal brain development is thought to underlie intellectual disability in people with Rubinstein-Taybi syndrome. Researchers have ...
- ... the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ... BIN1 gene mutations that are inherited in an autosomal dominant pattern can cause centronuclear myopathy.Centronuclear myopathy caused ...
- ... an unusually large head size (macrocephaly), tall stature, intellectual disability, seizures, ataxia, and other health problems. Researchers are ... encephalopathy caused by CACNA1A gene variants often experience intellectual disability, ataxia, nystagmus, and weak muscle tone (hypotonia). Studies ...
- ... normal range.People with Sotos syndrome often have intellectual disability, and most also have neurodevelopmental disorders. Conditions that ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one ...
- ... of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced ... been identified. FGFR3 Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered ...
