Presentation
Entire Body System
- 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]
- 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
- Visual Impairment
Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. [uniprot.org]
Ears
- 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
- 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]
- 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
- 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]