Results 1 -
10
of
25
for
Rare syndromic intellectual disability
- ... linked intellectual deficit, Najm type Genetic Testing Registry: Syndromic X-linked intellectual disability Najm type National Organization for Rare Disorders (NORD) FG SYNDROME 4; FGS4 INTELLECTUAL DEVELOPMENTAL ...
- ... syndrome Spermine synthase deficiency SRS Genetic Testing Registry: Syndromic X-linked intellectual disability Snyder type X-linked intellectual disability, Snyder type National Organization for Rare Disorders (NORD) INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ...
- ... linked mental retardation Siderius type Genetic Testing Registry: Syndromic X-linked intellectual disability Siderius type X-linked intellectual disability, Siderius type National Organization for Rare Disorders (NORD) INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ...
- ... mental retardation syndrome Trisomy Xq28 Genetic Testing Registry: Syndromic X-linked intellectual disability Lubs type Proximal Xq28 duplication syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov INTELLECTUAL DEVELOPMENTAL DISORDER, X- ...
- ... their sons. MRXS13 PPMX X-linked mental retardation, syndromic 13 Genetic Testing Registry: Rett syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome National Organization for Rare Disorders (NORD) INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC ...
- ... marfanoid features Genetic Testing Registry: X-linked intellectual disability with marfanoid habitus Lujan-Fryns syndrome National Organization for Rare Disorders (NORD) INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE; MRXSLF PubMed Lerma-Carrillo I, ...
- ... mild learning disabilities. It is unclear if these disabilities are related to the gene mutation or occur by chance. ... PubMed Gilfillan GD, Selmer KK, ...
- ... Xia F, Sutton VR. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 6;8(1):3. ...
- ... loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. Am J Med Genet A. 2015 Oct;167A( ...
- ... abnormalities (typically affecting the toes), hearing loss, and intellectual disabilities. OFCD syndrome is very rare; the incidence is estimated to be less than ...
