SHMARQL

Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

<http://www.wikidata.org/entity/Q69633053>

rare genetic disease
rdfs:label
"Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"@en
skos:altLabel "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract"@en
schema:description "rare genetic disease"@en
schema:dateModified "2026-10-24T00:24:26+00:00"^^xsd:dateTime
schema:version 2560165521
wikibase:identifiers 7
wikibase:sitelinks 0
wikibase:statements 32
p:P11430 wd:statement/Q69633053-55c1e6ef-4be1-4383-788a-6b7362b8a8bd
p:P1193 wd:statement/Q69633053-EF88E38A-1988-4D07-827D-4750C7008259
p:P14914 wd:statement/Q69633053-1E4653FA-A638-44AB-850F-D9CDFD1AA668
p:P1550 wd:statement/Q69633053-11e56d1b-4021-9423-c2bf-13341225e5f4
p:P2293 wd:statement/Q69633053-3db799df-4dc8-62ec-abea-351d9a27438f
p:P279 wd:statement/Q69633053-312df31a-4749-c519-8458-ee561319c578
p:P2841 wd:statement/Q69633053-D18D85C5-EF77-4A9A-BEF9-BAEEFFF8AD14
wd:statement/Q69633053-EC9B7EB6-3BCB-4D6C-9BF4-47F464CC3873
p:P2892 wd:statement/Q69633053-090b5d4b-4341-026f-e4b9-34bbf962c3de
wd:statement/Q69633053-974B393B-87DD-4A7D-A2A7-B4B5189AF0C4
p:P31 wd:statement/Q69633053-0777b8ac-4e69-cb91-e3ad-3b0bb43bc9a3
wd:statement/Q69633053-FA388891-65E7-4A44-B4EA-E15631104804
p:P492 wd:statement/Q69633053-b1d71d09-4699-015f-d412-ce38f10ee098
p:P5270 wd:statement/Q69633053-39B37FD6-955F-4990-A361-4DD42B004E35
p:P6532 wd:statement/Q69633053-097499BC-4ED2-4E18-B4D2-EA3C0B60BA5A
wd:statement/Q69633053-0E4CBD3E-6ADA-4BC0-842D-1F3F8EDC27C0
wd:statement/Q69633053-20086C60-1532-4048-8FF2-78E174797148
wd:statement/Q69633053-21330084-F90E-4D70-AA71-CEDB9AF69A8E
wd:statement/Q69633053-37FE172A-040F-4325-B716-4FD00B6FCB4E
wd:statement/Q69633053-43D2CF98-83A9-47F5-B6EC-7E23E0F1DE55
wd:statement/Q69633053-4919DAB3-A557-43B8-A3E5-9B34D2DE855E
wd:statement/Q69633053-58D43A98-D75C-478C-A038-1E7C23975F95
wd:statement/Q69633053-76FE73BD-E8C7-4654-AFFE-996C7C3CBB52
wd:statement/Q69633053-78BDF852-190D-4CA9-B11D-67C43556DE13
wd:statement/Q69633053-7B3B47B9-0C4D-472B-99F4-8EFAF25B5387
wd:statement/Q69633053-8207F275-F7D2-4D7A-B9F3-D0CF184A334C
wd:statement/Q69633053-A6F8B391-1D40-41A2-AFEC-05693BC4196D
wd:statement/Q69633053-A9E15C53-F6ED-4194-A28D-C8CDCFC3FB1E
wd:statement/Q69633053-B76D8D1F-6452-4AF2-8BEF-FCF8A43558C0
wd:statement/Q69633053-C0AEC77B-34D5-4090-AED0-25A45A28C341
wd:statement/Q69633053-CDA4B863-CCEF-4A61-8E37-B5FD6B21B9CC
wd:statement/Q69633053-FF046C5A-3D24-4904-A6DF-87584A9AF2D7
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0044306>
wdt:P11430 "DI-04969"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D500545"
wdt:P1550 "500545"
wdt:P2293 NACC1
wdt:P279 syndromic cataract
wdt:P2841 neonatal onset
infantile onset
wdt:P2892 "C4479333"
"C5568106"
wdt:P31 type of disease
rare disease
wdt:P492 "617393"
wdt:P5270 "MONDO_0044306"
wdt:P6532 spasticity
Severe mental retardation
Delayed CNS myelination
Poor head control
Apneic episodes in infancy
Feeding difficulties in infancy
Floppy infant
Nasogastric tube feeding
contracture
failure to thrive
obstructive sleep apnea
developmental regression
scoliosis
intellectual disability
Childhood cataract
delayed myelination
microcephaly
hypsarrhythmia
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data from SPARQL profile: Wikidata