To date, over 15 mutations have been found in consanguineous families of Greek, Italian, Turkish, Pakistani, Saudi Arabian, and Indian descent. [ncbi.nlm.nih.gov]

Most of the families with history of HGPPS have Arabic, Saudi, Turkish, Greek, Italian, American, and Chinese ethnicities ( 3 ). [journals.lww.com]

Epidemiologically HGPPS mostly concentrates in families of Saudi 2,6, Turkish 6, Irish 10 and Tunisian 11 ethnicities. [hippokratia.gr]

Both patients were from Fogo Island in Cape Verde. Family history revealed African ancestry. There was no history of consanguinity or contact with other ethnicities. [journals.lww.com]

impairment 0000407 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Congenital onset Symptoms present at birth [rarediseases.info.nih.gov]

neck Decreased length of neck 0000470 5%-29% of people have these symptoms Seizures Seizure 0001250 Sensorineural hearing impairment 0000407 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 [rarediseases.info.nih.gov]

CONCLUSION: We report the first known HGPPS case with intracranial hemorrhage and ROBO3 mutation showing an absence of major crossing pathways by DTI. [ncbi.nlm.nih.gov]

CONCLUSION We report the first known HGPPS case with intracranial hemorrhage and ROBO3 mutation showing an absence of major crossing pathways by DTI. [unboundmedicine.com]

Treatment is based on the signs and symptoms present in each person. 0002808 Scoliosis Abnormal curving of the spine 0002650 30%-79% of people have these symptoms Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive [rarediseases.info.nih.gov]

At 18 months, he developed bacterial menigitis resulting in cognitive impairment, reduced muscle tone and strength, and difficulties with speech and coordination. [journals.lww.com]

Horizontal gaze palsy is explained by agenesis of abducens nuclei, whereas scoliosis could be due to chronic muscle tone abnormalities resulting from primary brain-stem disease involving posterior column structures and associative bundles. [ajnr.org]

These are most commonly myopathic in origin, occurring with mitochondrial disorders (chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, MELAS), myotonic dystrophy, oculopharyngeal dystrophy, thyroid eye disease, myasthenia gravis, and [medlink.com]