delays, and a propensity for seizures. [malacards.org]

delay, and the presence of skeletal dysplasias-the first is a classical presentation of Galloway–Mowat syndrome, a second syndrome of microcephaly, nephrotic syndrome, and developmental delay (MNSDD), and a third syndrome of microcephaly, developmental [ncbi.nlm.nih.gov]

Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes. Am J Med Genet. 1999;82(3):257–60. 4. Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, et al. [ojrd.biomedcentral.com]

Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway-Mowat syndrome. Indian J Pediatr. 2012;79:1087-1090. Pezzella M, Yeghiazaryan NS, Veggiotti P, et al. [rarediseases.org]

Affiliated tissues include eye, brain and kidney, and related phenotypes are abnormal facial shape and short stature OMIM : 56 Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and [malacards.org]

stature [Meyers et al., 1999]. [ncbi.nlm.nih.gov]

Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive. MalaCards based summary : Galloway-Mowat Syndrome 7, is also known as gamos7. [malacards.org]

Skeletal abnormalities such as arachnodactyly or camptodactyly (Fig. 2) were also noted in all patients. Other dysmorphisms included a high arch palate (5/6). [ojrd.biomedcentral.com]

[…] inflammation of the esophagus (esophagitis); choking; closure of the larynx due to sudden, violent laryngeal contractions (laryngospasm); an inflammatory condition of the lungs caused by the entrance of food particles into the respiratory passages (aspiration pneumonia [rarediseases.org]

[…] inflammation of the esophagus (esophagitis); choking; closure of the larynx due to sudden, violent laryngeal contractions (laryngospasm); an inflammatory condition of the lungs caused by the entrance of food particles into the respiratory passages (aspiration [rarediseases.org]

Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive. MalaCards based summary : Galloway-Mowat Syndrome 7, is also known as gamos7. [malacards.org]

Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements [rarediseases.org]

Eye exam revealed intermittent alternating exotropia, partial optic atrophy, cortical visual impairment, and temporal optic disc pallor. Renal ultrasound and metabolic screening have remained normal until age 1.5 years. [ncbi.nlm.nih.gov]

edema) and in the lowermost parts of the body, such as the ankles (dependent edema). [rarediseases.org]

dysplasias-the first is a classical presentation of Galloway–Mowat syndrome, a second syndrome of microcephaly, nephrotic syndrome, and developmental delay (MNSDD), and a third syndrome of microcephaly, developmental delay, and spondylorhizomelic short [ncbi.nlm.nih.gov]

Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements [rarediseases.org]

These features were not dissimilar to the previously described typical microcephalic faces encompassing sloping forehead, pinched nose, micrognathia, and large ears. [ncbi.nlm.nih.gov]

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. [malacards.org]

The consistent facial dysmorphic features included large and floppy ears, micrognathia, hypertelorism, microphthalmia, sunken eyeballs, coarse hair, a narrow or receding forehead, a beak nose, and prominent glabella with a broad nasal bridge. [ojrd.biomedcentral.com]

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. [malacards.org]

Physical features may include malformations of the head and facial (craniofacial) area including microcephaly, which can be present at birth or develop shortly after birth, an abnormally high, narrow forehead and unusually small jaw bones (micrognathia [rarediseases.org]

Urinary analysis may reveal small traces of blood (hematuria) and abnormally high levels of protein (proteinuria), specifically albumin (albuminuria), in the urine. [rarediseases.org]

Galloway-Mowat syndrome 7: 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 [malacards.org]

Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]

However, the onset, type, and frequency of the seizures as their response to therapy varied greatly between the patients as well. [ncbi.nlm.nih.gov]

The main clinical manifestations included postnatal microcephaly, a coarse face, severe intellectual disability, seizures, cerebellar ataxia, optic atrophy, and late-onset nephrotic syndrome [4,5,6,7,8]. [ojrd.biomedcentral.com]

Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements (nystagmus [rarediseases.org]