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 14
Phenotype entries for this disease 27
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

14 entries on 1 page. Showing entries 1 - 14.
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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
00484148 patient - - F no China Chinese 00y00m04d - - - encephalopathy, neonatal, severe born at 39 weeks of gestation, dyspnea and recurrent apnea after birth, hypotonia that rapidly transformed into hypertonicity, cranial and facial dysmorphism, arthrogryposis, talipes equinovarus, other limb or skeletal deformities, necrotizing enterocolitis, pneumonia, anemia, death due to respiratory failure on the 4th day after birth SLC6A9 SLC6A9 2 1 Ke Wu
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