Disease #05913 (LEPID (leukoencephalopathy, progressive, infantile-onset, with/without deafness (LEPID)), OMIM:619147)

Official abbreviation LEPID
Name leukoencephalopathy, progressive, infantile-onset, with/without deafness (LEPID)
OMIM ID 619147
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene KARS
Associated tissues -
Disease features -
Remarks -
Date created 2021-03-23 10:07:52 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00336011 Pat3 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - F - - - - - - - LEPID birth-OFC -3 SDS, current OFC -5 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; no hearing loss; immunological and hematological abnormalities; no white matter lesions; no cerebral tissue loss; no brain calcifications; no heart involvement KARS KARS 2 1 Gerarda Cappuccio
00336012 Pat4 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID birth-OFC -1.2 SDS, current OFC -3.2 SDS; no growth delay; developmental delay/intellectual disability; no movement disorder; seizures; oculomotor dysfunction; no hearing loss; no immunological and hematological abnormalities; no white matter lesions; no cerebral tissue loss; no brain calcifications KARS KARS 2 1 Gerarda Cappuccio
00336014 Pat1 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID birth-OFC -4.7 SDS, current OFC -11.4 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; no oculomotor dysfunction; no hearing loss; immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; no brain calcifications; heart involvement; increased lactate (serum, CSF, or MRS) KARS KARS 2 1 Gerarda Cappuccio
00336015 Pat8 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - F - - - - - - - LEPID birth-OFC -3.3 SDS, current OFC -5.2 SDS; growth delay; developmental delay/intellectual disability; no movement disorder; no seizures; oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; white matter lesions; no cerebral tissue loss; brain calcifications; heart involvement; increased lactate (serum, CSF, or MRS) KARS KARS 2 1 Gerarda Cappuccio
00336017 Pat5 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - - - - - - - - - LEPID birth-OFC -4 SDS, current OFC -6 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; no brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS) KARS KARS 1 1 Gerarda Cappuccio
00336018 Pat6 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID birth-OFC -3.7 SDS, current OFC -5.5 SDS; no growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; no hearing loss; no immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; no brain calcifications; no heart involvement KARS KARS 1 1 Gerarda Cappuccio
00336022 Pat7 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID birth-OFC -1.7 SDS, current OFC -5.7 SDS; growth delay; developmental delay/intellectual disability; no movement disorder; seizures; no oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; no white matter lesions; cerebral tissue loss; no brain calcifications; heart involvement; increased lactate (serum, CSF, or MRS) KARS KARS 1 1 Gerarda Cappuccio
00336023 Pat9 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID current OFC -1.4; growth delay; developmental delay/intellectual disability; movement disorder; seizures; hearing loss; white matter lesions; cerebral tissue loss; brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS) KARS KARS 2 1 Gerarda Cappuccio
00336032 Pat2 PubMed: Cappuccio 2021, Journal: Cappuccio 2021 - M - - - - - - - LEPID birth-OFC -2.3 SDS, current OFC -4 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; hearing loss; immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS) KARS KARS 2 1 Gerarda Cappuccio
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