Disease #00787

Official abbreviation -
Name encephalopathy, neonatal, severe
OMIM ID 300673
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 10
Phenotype entries for this disease 23
Associated with 1 gene MECP2
Associated tissues -
Disease features -
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Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00065108 - PubMed: Chong 2016, Journal: Chong 2016 family, mother and sister with cleft lip and palate, sister with arrhythmia, PatA-ll-1 M no - Puerto Rican >14y 0 - - encephalopathy, neonatal, severe see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cataracts (HP:0000518), ptosis (HP:0000508), cortical visual impairment (HP:0100704), no abnormal hearing (-HP:0100704), right preauricular pit (HP:0004467), gingival hyperplasia (HP:0000212), macroglossia (HP:0000158), neurogenic bladder (vesicostomy) (HP:0000011), subdural hematoma (unclear etiology) (HP:0100309), metabolic stroke (HP:?), osteoporosis (three femur fractures) (HP:0000939), hypertriglyceridemia (HP:0002155), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), no deep-set eyes (-HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212) TBCK TBCK 1 1 Jamie Zeegers
00065111 - PubMed: Chong 2016, Journal: Chong 2016 4-generation family, two affected cousins, unaffected parents; PatB-IV-4, two affected brothers with hematologic disorder F yes - Lebanese >04y 0 - - encephalopathy, neonatal, severe see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cortical visual impairment (HP:0100704), no abnormal hearing (-HP:0100704), osteoporosis (three femur fractures) (HP:0000939), mild virilization of external genitalia as a neonate (subsequently normalized) (HP:?), turricephaly (HP:0000262), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), no coarse features (-HP:0000280), no macroglossia (-HP:0000158), gingival hyperplasia (HP:0000212) TBCK TBCK 1 1 Jamie Zeegers
00065114 - PubMed: Chong 2016, Journal: Chong 2016 4-generation family, two affected cousins, unaffected parents, PatB-IV-6 F yes - Lebanese 10y 0 - - encephalopathy, neonatal, severe see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), visual impairment (HP:0000505), no abnormal hearing (-HP:0100704), osteoporosis (three femur fractures) (HP:0000939), muscle fasciculations (HP:0002380), increased muscle bulk (HP:0030236), elevated creatine kinase (800 IU/L) during viral infection (not repeated) (HP:0003236), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), no coarse features (-HP:0000280), no macroglossia (-HP:0000158) TBCK TBCK 1 1 Jamie Zeegers
00065115 - PubMed: Chong 2016, Journal: Chong 2016 family, similarly affected sister (deceased), unaffected heterozygous carrier parents M yes - Egyptian >02y 0 - - encephalopathy, neonatal, severe see paper: developmental disability (HP:?), no developmental regression (-HP:0002376), severe hypotonia (HP:0006829), bilateral optical atrophy (HP: ?), severe esotropia (HP:0000565), no abnormal hearing (-HP:0100704), right-sided aortic arch (HP:0012020), 11 ribs (HP:0000878), turricephaly (HP:0000262), hypertrichosis (HP:0000998), bitemporal narrowing (HP:0000341), no arched eyebrows (-HP:0002553), no deep-set eyes (-HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), no macroglossia (-HP:0000158) TBCK TBCK 1 2 Jamie Zeegers
00065116 - PubMed: Chong 2016, Journal: Chong 2016 no family history, unaffected heterozygous carrier parents M no - Puerto Rican >14y 0 - - encephalopathy, neonatal, severe see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cortical visual impairment (HP:0100704), no abnormal ERG (-HP:0000512), no abnormal hearing (-HP:0100704), hypertriglyceridemia (HP:0002155), tongue fasciculations (HP:0001308), intermittent hyponatremia (HP:0002902), osteoporosis (HP:0000939), bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), no anteverted nares (-HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212) TBCK TBCK 1 1 Jamie Zeegers
00079660 - PubMed: Soffer - M - United States - - 0 - - encephalopathy, neonatal, severe - MECP2 MECP2 1 1 Henk van Kranen
00152004 13864 PubMed: Mignon-Ravix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France - 00y00m16d 0 - - encephalopathy, neonatal, severe see paper; ... UBA5 UBA5 1 1 Laurent Villard
00225649 Patient 4 PubMed: Metodiev 2014 2 affected M yes Algeria - 00y02m? 0 - - encephalopathy, neonatal, severe Central apnoea (HP:0000961), Cerebral atrophy (HP:0002059), Bradycardia (HP:0001662), Abnormality of eye movement (HP:0000496), Optic disc pallor(HP:0000543), Muscular hypotonia of the trunk (HP:0008936), Vertigo/dizziness:(HP:0002321) ACO2 ACO2 1 1 Thomas Foulonneau
00225650 Patient 5 PubMed: Metodiev 2014 2-generation family, 1affected F no - - - 0 - - encephalopathy, neonatal, severe Abnormality of eye movement (HP:0000496), Cerebellar atrophy (HP:0001272), Bilateral Optic disc pallor (HP:0000543), Muscular hypotonia of the trunk (HP:0008936), Global developmental delay (HP:0001263), Nystagmus (HP:0000639), Poor eye contact (HP:0000817), Abnormal saccadic eye movements (HP:0000570) ACO2 ACO2 1 1 Thomas Foulonneau
00228163 00226093 - - M yes Syria - 01y09m 0 - - encephalopathy, neonatal, severe microcephaly, pachygyria, polymicrogyria, encephalopathy, abnormal cortical gyrus, corpus callosum agenesia, brain atrophy TRAPPC12 TRAPPC12 1 1 Evren Gumus
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