About: Salt and pepper syndrome

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Salt and pepper syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.org associated with source document(s)
QRcode icon

http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FSalt_and_pepper_syndrome

Salt and pepper syndrome, also known as Amish infantile epileptic syndrome or GM3 deficiency syndrome, is a rare autosomal recessive progressive neurological disorder characterized by developmental delay, severe intellectual disability, seizures, and skin pigmentation irregularities. The clinical symptoms of this condition start manifesting soon after birth, during the newborn/neo-natal stage of life.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Salt and pepper syndrome (en)
rdfs:comment	Salt and pepper syndrome, also known as Amish infantile epileptic syndrome or GM3 deficiency syndrome, is a rare autosomal recessive progressive neurological disorder characterized by developmental delay, severe intellectual disability, seizures, and skin pigmentation irregularities. The clinical symptoms of this condition start manifesting soon after birth, during the newborn/neo-natal stage of life. (en)
name	Salt and pepper syndrome (en)
foaf:depiction
dcterms:subject	Neurogenetic disorders Rare genetic syndromes Autosomal recessive disorders
Wikipage page ID	71961875 (xsd:integer)
Wikipage revision ID	1119336010 (xsd:integer)
Link from a Wikipage to another Wikipage	Benzodiazepine Blindness Neurogenetic disorders Anomaly scan Anticonvulsant Homozygous Pennsylvania Visual perception Deafness Developmental regression ST3GAL5 Rare genetic syndromes Genetic testing Nonsense mutation Electroencephalogram Genetic mutation Ophthalmoscopy Autosomal recessive disorders MRI Malnutrition Choreoathetosis Gangliosides Medical genetics Hearing Irritability Chromosome 2 Failure to thrive Founder effect Frameshift mutation Vomiting Rett syndrome Heterozygous Hypotonia Black pepper Whole exome sequencing Phenobarbital Physical examination South Korea IQ test IQ tests Insomnia Ohio Seizures Salt Ultrasound Vagus nerve stimulation Valproic acid Old Order Amish Sanger sequencing Electroencephalograms Feeding difficulties Tonic-clonic seizures Optic atrophy Geauga County Icthyosis OMIM Self-harming MRIs dbr:Gastric_tube_feeding
sameAs	Salt and pepper syndrome Salt and pepper syndrome
specialty	Medical genetics
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Orphan dbt:Reflist dbt:Infobox_medical_condition
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
onset	Childhood (en)
causes	Genetic mutation
synonyms	Amish infantile epilepsy syndrome, ST3GAL5-CDG, Salt and pepper mental retardation syndrome, Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness, Epilepsy syndrome, infantile-onset symptomatic (en)
has abstract	Salt and pepper syndrome, also known as Amish infantile epileptic syndrome or GM3 deficiency syndrome, is a rare autosomal recessive progressive neurological disorder characterized by developmental delay, severe intellectual disability, seizures, and skin pigmentation irregularities. The clinical symptoms of this condition start manifesting soon after birth, during the newborn/neo-natal stage of life. (en)
prevention	none (en)
prov:wasDerivedFrom	wikipedia-en:Salt_and_pepper_syndrome?oldid=1119336010&ns=0
page length (characters) of wiki page	21038 (xsd:nonNegativeInteger)
alias	(en) Amish infantile epilepsy syndrome, ST3GAL5-CDG, Salt and pepper mental retardation syndrome, Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness, Epilepsy syndrome, infantile-onset symptomatic (en)
foaf:isPrimaryTopicOf	wikipedia-en:Salt_and_pepper_syndrome
is Link from a Wikipage to another Wikipage of	ST3GAL5
is foaf:primaryTopic of	wikipedia-en:Salt_and_pepper_syndrome

Faceted Search & Find service v1.17_git139 as of Feb 29 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3330 as of Mar 19 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (378 GB total memory, 55 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software