Disease #03558 (PRLTS3;DFNB81 (Perrault syndrome, type 3 (PRLTS3; DFNB81)), OMIM:614129)

Official abbreviation PRLTS3;DFNB81
Name Perrault syndrome, type 3 (PRLTS3; DFNB81)
OMIM ID 614129
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene CLPP
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00056386 - PubMed: Demain 2016, Journal: Demain 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) Arab - - - - PRLTS3;DFNB81 see paper; ..., Perrault syndrome (PRTLS) CLPP CLPP 1 1 Leigh Demain
00081706 - manuscript submitted, PMID will become be available consanguineous family, consisting of index child and brother who were diagnosed with Perrault syndrome type 3 with neurological symptoms (WES approach), one healthy sibling M yes Morocco African - - yes, pedigree only supportive treatment PRLTS3;DFNB81 Sensorineural hearing loss (HP:0000407) epilepsy, seizures (HP:0001250) White matter affected (MRI), periventricular, (HP:0002500),(HP:0002518) spastic ataxia (HP:0002497) psychomotor retardation (HP:0001263) autism (HP:0000717) - CLPP 1 1 Tom Theunissen
00081707 - manuscript submitted, PMID will become available single index patient from non-consanguineous parents was diagnosed with Perrault syndrome type 3, involving neurological symptoms. Patient was identified by screening the Amsterdam brain-MRI database containing over 3000 leukoencephalopathy cases. M no - white - - pedigree no PRLTS3;DFNB81 sensorineural hearing loss (HP:0000407) psychomotor retardation (HP:0001263) white matter abnormalities, periventricular (MRI) (HP:0002500), (HP:0002518) spastic ataxia (HP:0002497) sensorimotor neuropathy (HP:0007141) stunted growth (HP:0001510) CLPP CLPP 2 1 Tom Theunissen
00081708 - PMID will become available single index patient from non-consanguineous parents was diagnosed with Perrault syndrome type 3, involving neurological symptoms. Patient was identified by screening the Amsterdam brain-MRI database containing over 3000 leukoencephalopathy cases. M no - white - - - no PRLTS3;DFNB81 sensorineural hearingloss (HP:0000408) psychomotor delay (HP:0001263) spastic diplegia (HP:0001264) microcephaly (HP:0000252) growth delay (HP:0001510) CLPP CLPP 2 1 Tom Theunissen
00435262 261306 - - F yes ? (unknown) Arabian - - - - PRLTS3;DFNB81 Hearing impairment, Intellectual disability, Neurodevelopmental delay, Short stature, Spasticity CLPP CLPP 1 1 Andreas Laner
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