Disease #04087

Official abbreviation MRT-42;GPIBD-9
Name mental retardation, autosomal recessive, type 42 (MRT-42, glycosylphosphatidylinositol deficiency, type 9 (GPIBD-9))
OMIM ID 615802
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene PGAP1
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00025127 - PubMed: Novarino 2014 4-generation family, 2 affected siblings (9m, 6y) with spastic paraplegia, unaffected heterozygous carrier parents M yes ? (unknown) Middle East - 0 - - MRT-42;GPIBD-9 The patients had global developmental delay, hand and foot tremors, and spasticity. The older brother could walk with support. Both had increased deep tendon reflexes. The older brother had prominent cortical sulci and widened sylvian fissures; the younger brother had agenesis of the corpus callosum, cerebellar vermis hypoplasia, and defective myelination. The older brother had borderline intelligence. PGAP1 PGAP1 1 2 Philippe Campeau
00025128 - PubMed: Murakami 2014 Two siblings,4 and 2-year-old, with mental retardation. - yes Syria African - 0 - - MRT-42;GPIBD-9 At birth, the older sister was hypotonic and his borther was a floppy baby. Both children have a developmental delay and severe intellectual disability with an estimated IQ below 35. The girl had major and absence epilepsy. They showed some stereotypic movements. Brain CT scan of the girl at age of one year revealed pronounced brain atrophy. They had microcephaly. Both children have large ears and a flattened nasal root. Their parents had head circumferences in the lower percentiles. PGAP1 PGAP1 1 1 Philippe Campeau
00081033 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MRT-42;GPIBD-9 Mental retardation, autosomal recessive 42 (OMIM:615802) PGAP1 PGAP1 1 1 Daniel Trujillano
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