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Quoted phrase not found in phrase index: "Intellectual developmental disorder, autosomal recessive 73"
Page 1
Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients.
Kong W, Meng Y, Zou L, Yang G, Wang J, Shi X. Kong W, et al. J Pediatr Endocrinol Metab. 2020 May 24;33(6):793-802. doi: 10.1515/jpem-2019-0505. J Pediatr Endocrinol Metab. 2020. PMID: 32447333
Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. ...Results Among the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech d …
Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is …
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U. Fischer B, et al. Mol Genet Metab. 2014 Aug;112(4):310-6. doi: 10.1016/j.ymgme.2014.05.003. Epub 2014 May 21. Mol Genet Metab. 2014. PMID: 24913064
Autosomal recessive cutis laxa (ARCL) type 2 constitutes a heterogeneous group of diseases mainly characterized by lax and wrinkled skin, skeletal anomalies, and a variable degree of intellectual disability. ...
Autosomal recessive cutis laxa (ARCL) type 2 constitutes a heterogeneous group of diseases mainly characterized by lax and wri …
Protein-truncating mutations in ASPM cause variable reduction in brain size.
Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG. Bond J, et al. Am J Hum Genet. 2003 Nov;73(5):1170-7. doi: 10.1086/379085. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574646 Free PMC article.
Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary microcephaly (MCPH), a condition in which there is a failure of normal fetal brain development, resulting in congenital microcephaly and menta …
Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary mi …
Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings.
Marcelis CL, Rieu P, Beemer F, Brunner HG. Marcelis CL, et al. Clin Dysmorphol. 2007 Apr;16(2):73-76. doi: 10.1097/MCD.0b013e3280147130. Clin Dysmorphol. 2007. PMID: 17351347
A whole genome linkage scan showed homozygosity for a 28-Mb region on chromosome 1p, and a 65-Mb region spanning most of chromosome 14. These results are consistent with an autosomal recessive condition that is similar to, but likely distinct from, Coffin-Siris synd …
A whole genome linkage scan showed homozygosity for a 28-Mb region on chromosome 1p, and a 65-Mb region spanning most of chromosome 14. Thes …
Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies.
Jonas RE, Kimonis VE, Morales A. Jonas RE, et al. Am J Med Genet. 1997 Dec 12;73(2):184-8. Am J Med Genet. 1997. PMID: 9409870 Review.
We describe a brother and sister with severe developmental delay, hypotonia, partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter degenerative abnormalities, macrocrania, frontal bossing, deep-set eyes, and hypertelorism. ...The coexistence of th …
We describe a brother and sister with severe developmental delay, hypotonia, partial agenesis of the corpus callosum, pontine hypopla …
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Kurihara M, Ishiura H, Sasaki T, Otsuka J, Hayashi T, Terao Y, Matsukawa T, Mitsui J, Kaneko J, Nishiyama K, Doi K, Yoshimura J, Morishita S, Shimizu J, Tsuji S. Kurihara M, et al. Cerebellum. 2018 Apr;17(2):237-242. doi: 10.1007/s12311-017-0883-4. Cerebellum. 2018. PMID: 28895081
We report the case of a 30-year-old Japanese man presenting with intellectual disability, early onset cerebellar ataxia, myoclonus, and dystonia without a family history. ...Although pure cerebellar ataxia is the most common clinical feature in SCA19/22 families, ex …
We report the case of a 30-year-old Japanese man presenting with intellectual disability, early onset cerebellar ataxia, myocl …