Disease #00787 (encephalopathy, neonatal, severe, OMIM:300673)

Official abbreviation -
Name encephalopathy, neonatal, severe
OMIM ID 300673
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 13
Phenotype entries for this disease 26
Associated with 1 gene MECP2
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

13 entries on 1 page. Showing entries 1 - 13.
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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 - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - - - 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 - - - encephalopathy, neonatal, severe see paper; ... UBA5 UBA5 1 1 Laurent Villard
00225649 Patient 4 PubMed: Metodiev 2014 2 affected M yes Algeria - 00y02m? - - - 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 - - - - - - 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 - - - encephalopathy, neonatal, severe microcephaly, pachygyria, polymicrogyria, encephalopathy, abnormal cortical gyrus, corpus callosum agenesia, brain atrophy TRAPPC12 TRAPPC12 1 1 Evren Gumus
00269534 - PubMed: Minardi 2020 - M no Italy - - - - - encephalopathy, neonatal, severe Epileptic encephalopathy (HP:0200134) - SCN1A 1 1 Francesca Bisulli
00375567 - - - - - Poland - - - - - encephalopathy, neonatal, severe Lennox-Gastaut epileptic encephalopathy responsive to cannabidiol treatment - SHANK1 1 1 Rafał Płoski
00413239 family PubMed: Sheffer 2015 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Israel Arab;Moslem - - - - encephalopathy, neonatal, severe poor suck (HP:0002033); gastroesophageal reflux (HP:0002020); restlessness (HP:0000711); severe motor delay (HP:0001270); speech delay (HP:0000750); infantile axial hypotonia (HP:0009062); spastic tetraplegia (HP:0002510); opisthotonos (HP:0002179); cerebral visual impairment (HP:0100704); vertical nystagmus (HP:0010544); myoclonic seizures (HP:0032794); multifocal polyspike wave complexes (HP:0002392); cerebellar hypoplasia (HP:0007360); hypoplasia of the cerebellar vermis (HP:0006817); dilation of lateral and fourth ventricle (HP:0006956, HP:0002198); micrognathia (HP:0000347); high arched palate (HP:0000218); prominent metopic suture (HP:0005487); posterior bulge of the skull (HP:0000929); fisted hands (HP:0001155) INPP4A APP, CKAP2L, DCHS1, FKBP4, INPP4A, IZUMO4 6 2 Frederike Leonie Harms
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