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Relative macrocephaly
- Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often ...
- ... and a large head compared to body size (relative macrocephaly). Other health problems have also been reported, including ...
- ... be from any of the following: Benign familial macrocephaly (family tendency toward large head size) Canavan disease (condition ...
- ... the EXT2 gene have been found in a family with seizures-scoliosis-macrocephaly syndrome. In individuals with this condition, seizures typically ...
- ... with no history of the disorder in their family. IDDMSF Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies SNIBCPS National Organization ...
- ... OFD1 gene mutation has been found in a family with a form of X-linked intellectual disability. Individuals with this condition have severe intellectual disability, an unusually large head size (macrocephaly), and breathing problems. This OFD1 gene mutation leads ...
- ... percent of people with this condition have a family history of some type of epilepsy, indicating that inherited genetic factors may play a role in some ... Lennox-Gastaut syndrome National Organization ...
- ... with no history of the disorder in their family.Having one mutated copy of the PTCH1 gene in each cell is enough to cause the features of Gorlin syndrome that are present early in life, including macrocephaly and skeletal abnormalities. For basal cell carcinomas and ...
- ... seen in more than one child in a family.
- ... G, Wollnik B. Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. Am J Med Genet A. 2017 Jan;173(1):264-267. doi: 10.1002/ajmg.a.37999. Epub 2016 Oct 18. Citation on PubMed