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Results 21 - 30 of 126 for Intellectual "disability," autosomal dominant 3
  1. KBG syndrome 
    ... its function may lead to developmental delay and intellectual disability in KBG syndrome. However, the mechanism is not ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  2. Potocki-Shaffer syndrome 
    ... of the PHF21A gene is the cause of intellectual disability and distinctive facial features in many people with the condition. The loss ... Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  3. Potocki-Lupski syndrome 
    ... extra copy of the RAI1 gene leads to intellectual disability and the other signs and symptoms of this condition. Extra ... This condition has an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  4. 17q12 deletion syndrome 
    ... copy of LHX1 is thought to contribute to intellectual disability, behavioral and psychiatric conditions, and ... This condition is inherited in an autosomal dominant pattern, which means one copy of the chromosomal ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  5. SCN8A-related epilepsy with encephalopathy 
    ... is unknown how SCN8A gene mutations lead to intellectual disability, movement problems, and the other ... This condition follows an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - Genetics
  6. 17q12 duplication 
    ... in more than one copy, contribute to intellectual disability, delayed development, and the other signs ... 17q12 duplications have an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/17q12-duplication - Genetics
  7. Dentatorubral-pallidoluysian atrophy 
    ... and the repeat region may be two or three times its usual length. The abnormally long CAG trinucleotide ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../dentatorubral-pallidoluysian-atrophy - Genetics
  8. Intestinal pseudo-obstruction 
    ... autosomal recessive Genetic Testing Registry: Visceral neuropathy, familial, 3, autosomal dominant Genetic Testing Registry: Intestinal pseudoobstruction, neuronal, chronic idiopathic, ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
  9. Limb-girdle muscular dystrophy 
    ... AUTOSOMAL RECESSIVE 12; LGMDR12 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3; LGMDD3 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics
  10. Autosomal dominant nocturnal frontal lobe epilepsy 
    ... Testing Registry: Autosomal dominant nocturnal frontal lobe epilepsy 3 Genetic Testing Registry: Autosomal dominant nocturnal frontal lobe epilepsy 4 Autosomal dominant nocturnal ...
    https://medlineplus.gov/...-dominant-nocturnal-frontal-lobe-epilepsy - Genetics
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