Results 1 -
10
of
23
for
Intellectual "disability," autosomal dominant 43
- ... retardation, autosomal dominant 43 MRD43 Genetic Testing Registry: Intellectual disability, autosomal dominant 43 Intellectual developmental disorder, autosomal dominant 43 National Organization ...
- ... microduplication syndrome MAND MBD5 haploinsufficiency Genetic Testing Registry: Intellectual disability, autosomal dominant 1 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... A novel elastin gene mutation resulting in an autosomal dominant form of cutis ... in the elastin gene. J Med Genet. 2006 Mar;43(3):255-8. doi: 10.1136/jmg.2005. ...
- Congenital Heart Defects/Genetics ... Congenital Heart Defects ... Bile Duct Diseases/Genetics ... Bile Duct Diseases ... Genetic and Rare Diseases Information Center ... From ...
- ... have recurrent seizures (epilepsy), migraine headaches, speech problems, intellectual disability, and uncontrolled muscle tensing (dystonia). Some people are ...
- ... and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed ... syndrome's characteristic signs (such as developmental delay, intellectual disability, and impaired speech). Additional genes in the deleted ...
(Genetic and Rare Diseases Information Center) 