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Alpha thalassaemia-mental retardation, X linked.
Gibbons R. Gibbons R. Orphanet J Rare Dis. 2006 May 4;1:15. doi: 10.1186/1750-1172-1-15. Orphanet J Rare Dis. 2006. PMID: 16722615 Free PMC article. Review.
While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to amb …
While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hyp …
The Brain Correlates of Laugh and Cataplexy in Childhood Narcolepsy.
Meletti S, Vaudano AE, Pizza F, Ruggieri A, Vandi S, Teggi A, Franceschini C, Benuzzi F, Nichelli PF, Plazzi G. Meletti S, et al. J Neurosci. 2015 Aug 19;35(33):11583-94. doi: 10.1523/JNEUROSCI.0840-15.2015. J Neurosci. 2015. PMID: 26290235 Free PMC article.
Cataplexy was marked by brief losses of mylohyoid muscle tone and by the observation of episodes of facial hypotonia, jaw drop, and ptosis. During laughter (without cataplexy) an increased hemodynamic response occurred in a bilateral network involving the mot …
Cataplexy was marked by brief losses of mylohyoid muscle tone and by the observation of episodes of facial hypotonia, j …
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.
Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava AK. Rodriguez JD, et al. Am J Med Genet A. 2010 Mar;152A(3):713-7. doi: 10.1002/ajmg.a.33208. Am J Med Genet A. 2010. PMID: 20186809
Analysis using reverse transcription polymerase chain reaction of lymphoblastoid cell line RNA from an affected male in the family revealed a stable chimeric transcript with the ACSL4 exons 13-17 replaced by a cryptic exon from intron 1 of the COL4A5 gene. A truncated 54 kDa prot …
Analysis using reverse transcription polymerase chain reaction of lymphoblastoid cell line RNA from an affected male in the family revealed …
Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.
Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T. Schmidt H, et al. Clin Genet. 2001 Feb;59(2):99-105. doi: 10.1034/j.1399-0004.2001.590206.x. Clin Genet. 2001. PMID: 11260210
Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced lumbal lordosis. ...On laboratory investigations, a …
Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal hei …
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.
Frost AR, Böhm SV, Sewduth RN, Josifova D, Ogilvie CM, Izatt L, Roberts RG. Frost AR, et al. Eur J Hum Genet. 2010 Jul;18(7):852-5. doi: 10.1038/ejhg.2010.28. Epub 2010 Mar 17. Eur J Hum Genet. 2010. PMID: 20234391 Free PMC article.
The patient is a 16-year-old female with learning difficulties, white matter abnormalities, elevated serum creatine kinase, oral-motor dyspraxia and facial hypotonia but minimal clinically significant involvement of other muscles. ...We also show that the transcript …
The patient is a 16-year-old female with learning difficulties, white matter abnormalities, elevated serum creatine kinase, oral-motor dyspr …