Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. J Hum Genet. 2012;57:70–2. [PubMed: 22129557] Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH. [ncbi.nlm.nih.gov]

Entry statusi Reviewed (UniProtKB/Swiss-Prot) Annotation program Chordata Protein Annotation Program Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Failure to Thrive

  Other related symptoms, usually present at birth and in infancy, include issues with feeding, failure to thrive, low muscle tone in early infancy followed by an increased muscle tone in later infancy, and delayed or impacted motor skills. * This composite [fdna.health]

• Small Head

  Those individuals affected by isolated Lissencephaly, as in just the brain malformation and no other syndrome, have symptoms such as a small head, small jaw, and indentation of the temples of the head. [fdna.health]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.org]