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Syndromic intellectual disability
- ... Aylsworth AS. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J ...
- ... 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( ...
- ... anophthalmia or microphthalmia). Additional signs and symptoms of syndromic anophthalmia or microphthalmia can include missing pieces of tissue in structures that form the eye (coloboma), intellectual disabilities, and abnormalities of the pituitary gland. The signs ...
- ... which is a form of X-linked intellectual disability. However, researchers speculate that it may actually be part of the same disease spectrum as Cornelia de Lange ... NCBI Gene ClinVar Deardorff ...
- ... causes MECP2 duplication syndrome, a condition characterized by intellectual disability, delayed development, and seizures. This condition affects males ...
- ... Xia-Gibbs syndrome, a neurological disorder characterized by intellectual disability and delayed speech development. A variety of other ... AHDC1 protein prevents normal brain development, leading to intellectual disability, speech problems, and other neurological features of Xia- ...
- ... disorder causes malformations of the head and face, intellectual disability, and abnormalities affecting other areas of the body. ... Wieczorek D. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with ...
- ... a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A loss of the MSX1 gene ...
- ... but can include an unusually small head (microcephaly), intellectual disability, heart defects, and growth delay. More About This ...
