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

9 entries on 1 page. Showing entries 1 - 9.
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AscendingPhenotype ID     
Diagnosis/Initial     
Diagnosis/Definite     
Phenotype details     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Owner     
Individual ID     
0000254749 - 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) Familial, autosomal recessive 00y10m - - - Johan den Dunnen 00336015
0000254750 - 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) Familial, autosomal recessive 17y05m - - - Gerarda Cappuccio 00336023
0000254751 - 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) Familial, autosomal recessive 14y - - - Gerarda Cappuccio 00336022
0000254752 - 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 Familial, autosomal recessive 01y - - - Gerarda Cappuccio 00336018
0000254753 - 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) Familial, autosomal recessive 02y01m - - - Gerarda Cappuccio 00336017
0000254754 - 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 Familial, autosomal recessive 03y05m - - - Gerarda Cappuccio 00336012
0000254755 - 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 Familial, autosomal recessive 11y02m - - - Gerarda Cappuccio 00336011
0000254756 - 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) Familial, autosomal recessive 01y04m - - - Gerarda Cappuccio 00336032
0000254757 - 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) Familial, autosomal recessive 08y - - - Gerarda Cappuccio 00336014
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