In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

J Lab Physicians [serial online] 2012 [cited 2019 May 14];4:129-30. Available from: Sir, Fever is associated with multitude etiologies and its diagnosis often requires number of investigations. [jlponline.org]

While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis griscelli for answers to personal questions. [pdfoftheworld.us]

Moreover, we need to educate the physician about different phenotypes of GS. [omicsonline.org]

[…] graying [ more ] 0002216 Retinopathy Noninflammatory retina disease 0000488 Seizures Seizure 0001250 White hair 0011364 30%-79% of people have these symptoms Global developmental delay 0001263 Hyperlipidemia Elevated lipids in blood 0003077 Intellectual disability [rarediseases.info.nih.gov]

In addition to the silvery-gray sheen of the hair and the light-colored skin, GS type 1 patients present with delayed motor development, intellectual disability and hypotonia. [orpha.net]

Affected individual may have intellectual disability, seizures, and weak muscle tone (hypotonia) eye and vision abnormalities. [omicsonline.org]

Affected individuals typically have delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities. [ghr.nlm.nih.gov]

Showing of 23 80%-99% of people have these symptoms Abnormality of movement Movement disorder Unusual movement [ more ] 0100022 Ataxia 0001251 Diplopia Double vision 0000651 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 [rarediseases.info.nih.gov]

Movement disorders: official journal of the Movement Disorder Society. 2004;19(4):472–5. [ojrd.biomedcentral.com]

Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. [ghr.nlm.nih.gov]

Griscelli syndrome is an inherited condition characterized by unusually light hypopigmented skin and light silvery-gray hair starting in infancy. [getpdffrommia.me]

The features of silvery hair, cerebellar atrophy, hypopigmented skin lesions, and absence of recurrent infections was suggestive of Elejalde Syndrome. Discussion ES is a rare syndrome, which was first described by Elejalde et al. [3]. [symbiosisonlinepublishing.com]

Since then, a little over than 60 cases of Griscelli syndrome (GS) have been reported in the medical literature in association with primary neurologic manifestations, with immunologic abnormalities or with silvery gray hair and hypopigmented skin as the [scielo.br]

Affiliated tissues include skin, bone and bone marrow, and related phenotypes are nystagmus and diplopia Disease Ontology : 12 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment [malacards.org]

Showing of 23 80%-99% of people have these symptoms Abnormality of movement Movement disorder Unusual movement [ more ] 0100022 Ataxia 0001251 Diplopia Double vision 0000651 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 [rarediseases.info.nih.gov]

The neurological deficits in Elejalde syndrome were reported as severe neurodevelopmental delay, seizures, hypotonia, and ophthalmological problems including nystagmus, diplopia, and retinal problems. [link.springer.com]

These individuals are prone to have developmental delays, seizures, weak muscle (hypotonia), vision problems and intellectual problems. This results in the defect of the gene MY05A. [mybiosource.com]

calcification Abnormal deposits of calcium in the brain 0002514 Percent of people who have these symptoms is not available through HPO Accumulation of melanosomes in melanocytes 0001008 Autosomal recessive inheritance 0000007 Hypopigmentation of the [rarediseases.info.nih.gov]

These pathways complement our catalog of research reagents for the study of Griscelli Syndrome, Type 1 including antibodies and ELISA kits against MYO5A, MYOSIN VA, DILUTE-OPISTHOTONUS, MYOVA. [novusbio.com]

Polyglucosan body disease, adult form 263570 GCDH 19p13.2 Glutaricaciduria, type I 231670 GCSH 16q23.2 Glycine encephalopathy 605899 GDAP1 8q21.11 Charcot-Marie-Tooth disease, axonal, type 2K 607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis [institutobernabeu.com]

Child had delayed milestones with growth retardation. On examination, child had pallor, vitals were normal. Cutaneous examination showed hypopigmented macule on face with silvery brown hair all over the body [Figure 3]. [ijtrichology.com]

herpesvirus 6 or in other herpesviruses, enteroviruses, or retroviruses. [checkorphan.org]