Presentation
Acronym GAMOS5 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Entire Body System
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Arachnodactyly
Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. [uniprot.org]
Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017). [ncbi.nlm.nih.gov]
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Developmental Delay
Definition A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. [uniprot.org]
Eyes
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Visual Impairment
Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. [uniprot.org]
Ears
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Hearing Impairment
Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017). [ncbi.nlm.nih.gov]
Face, Head & Neck
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Hypertelorism
Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. [uniprot.org]
Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. [ncbi.nlm.nih.gov]
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Narrow Forehead
Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. [uniprot.org]
Neurologic
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Seizure
Definition A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. [uniprot.org]
Treatment
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]
(July 2017) Treatment[edit] This section is empty. You can help by adding to it. (July 2017) References[edit] a b Cooperstone BG, Friedman A, Kaplan BS (Aug 1993). [en.wikipedia.org]