Results 1 -
10
of
115
for
Mental "retardation," autosomal dominant 8
- ... autosomal dominant 62 SHINE syndrome sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome ... and Its Interaction Partners. Int J Mol Sci. 2022 Apr 15;23(8):4390. doi: 10.3390/ijms23084390. Citation on PubMed ...
- ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of ... (also called mutations) in at least eight genes cause the various types of osteopetrosis. Variants ...
- ... person inherited the mutation from one affected parent. Mental retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal ...
- ... no history of the disorder in their family. Mental retardation, autosomal dominant 43 MRD43 Genetic Testing Registry: Intellectual disability, autosomal ...
- The DYRK1A gene provides instructions for making an enzyme that is important in the development of the nervous system. The DYRK1A enzyme is a kinase, which ...
- ... eggs or sperm) or in early embryonic development. Mental retardation, autosomal dominant 37 MRD37 WHSUS Genetic Testing Registry: Intellectual disability- ...
- ... microduplication syndrome MAND MBD5 haploinsufficiency Genetic Testing Registry: Intellectual disability, autosomal dominant 1 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
- ... no history of the disorder in their family. Autosomal dominant mental retardation 35 Genetic Testing Registry: Congenital stationary night blindness ...
- ... no history of the disorder in their family. Mental retardation, autosomal dominant 29 MRD29 SETBP1 disorder SETBP1 LoF syndrome SETBP1 ... disorder SETBP1-related intellectual disability Genetic ... Intellectual developmental disorder, autosomal dominant 29 National ...
- ... 5; LGMDR5 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE ...
