Disease #00860 (NTD (neural tube defects, susceptibility to (NTD)), OMIM:182940)

Official abbreviation NTD
Name neural tube defects, susceptibility to (NTD)
OMIM ID 182940
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 88
Phenotype entries for this disease 63
Associated with 5 genes CCL2, FUZ, T, VANGL1, VANGL2
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

88 entries on 1 page. Showing entries 1 - 88.
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00057254 - - - M no Italy - - - - - NTD - TNIP1 TNIP1 1 1 Eugenio Sangiorgi
00057255 - - - M no Italy - - - - - NTD - TNIP1 TNIP1 1 1 Eugenio Sangiorgi
00100372 - - - - - - - - - - - NTD Myelomeningocele GRHL3 GRHL3 1 8 Philippe Lemay
00100500 - - - F yes - - - - - - NTD 1 Child has Cleft lip/palate, scoliosis 1 Child has Renal cyst, scoliosis GRHL3 GRHL3 1 2 Philippe Lemay
00100501 - - - M ? - - - - - - NTD Myelomeningocele with renal cyst and scoliosis GRHL3 GRHL3 1 1 Philippe Lemay
00100502 - - - F ? - - - - - - NTD Myelomeningocele GRHL3 GRHL3 1 1 Philippe Lemay
00100503 - - - F ? - - - - - - NTD Myelomeningocele GRHL3 GRHL3 1 1 Philippe Lemay
00100504 - - - M ? Italy - - - - - NTD Myelomeningocele GRHL3 GRHL3 1 1 Philippe Lemay
00100505 - - - F ? Italy - - - - - NTD Myelomeningocele GRHL3 GRHL3 1 1 Philippe Lemay
00100506 - - - F ? Italy - - - - - NTD Myelomeningocele with neurogenic bladder GRHL3 GRHL3 1 1 Philippe Lemay
00106647 - - - F - China Chinese - - - - NTD Neural tube defects; Anencephalus, occipital cervical thoracic lumbal spinal bifida aperta, left eye exophthalmos, lung lobe deformity DACT1 DACT1 1 1 Yunping Lei
00106648 - - - F - China Chinese - - - - NTD Neural tube defects; Complete anencephalus, whole spinal bifida aperta; absence of neck; thorax deformity; both upper limb overlength; lung lobe deformity (both lungs deformity of having one lobe each), atelectasis DACT1 DACT1 1 1 Yunping Lei
00106649 - - - F - China Chinese - - - - NTD Neural tube defects; Anencephalus, cervial occipital spina bifida aperta; atrial septal defect; left lung lobe deformity; bilateral adrenal dysplasia; atelectasis DACT1 DACT1 1 1 Yunping Lei
00106650 - - - F - China Chinese - - - - NTD Neural tube defects DACT1 DACT1 1 1 Yunping Lei
00106651 - - - - - China Chinese - - - - NTD Neural tube defects DACT1 DACT1 1 1 Yunping Lei
00107757 - - - M - China Han Chinese - - - - NTD anencephaly; neural tube defects SEC24B SEC24B 1 1 Hongyan Wang
00107758 - - - F - China Chinese - - - - NTD lumbosacral myelomenigocele, hydrocephalus; neural tube defects SEC24B SEC24B 1 1 Hongyan Wang
00107759 - - - M - China Chinese - - - - NTD occipital encephalocele, bilateral atelectasis, visceral congestion; neural tube defects SEC24B SEC24B 1 1 Hongyan Wang
00107760 - - - M - China Chinese - - - - NTD lumbosacral myelocystocele, talipes equinovarus, lung lobe branching malformation, chest deformity; neural tube defects SEC24B SEC24B 1 1 Hongyan Wang
00107853 - - - M - Italy Italian - - - - NTD Myelomeningocele FZD3 FZD3 1 1 Patrizia De Marco
00107855 - - - F - Italy Italian - - - - NTD Lumbo-sacral MMC, Chiari malformation type II, hydrocephalus, hydromyelia, low spinal cord, severe scoliosis, paraparesis, genitourinary abnormalities. FZD3 FZD3 1 1 Patrizia De Marco
00107856 - - - M - Italy Italian - - - - NTD Myelomeningocele FZD3 FZD3 1 1 Patrizia De Marco
00107858 - - - F - Italy Italian - - - - NTD sacral agenesis, lumbo-sacral LipoMMC, tethered cord, right bladder-ureteral reflux FZD6 FZD6 3 1 Patrizia De Marco
00107859 - - - F - Italy Italian - - - - NTD Lumbo-sacral LipoMMC FZD6 FZD6 3 1 Patrizia De Marco
00107861 - - - F - Italy Italian - - - - NTD Myelomeningocele and hydrocephalus FZD6 FZD6 1 1 Patrizia De Marco
00107863 - - Maternal third-degree relative has open Neural Tube DefectTD; parents are first- degree cousins. F yes Italy Italian - - - - NTD Lumbo-sacral myelomeningocele, hydrocephalus FZD6 FZD6 1 1 Patrizia De Marco
00107864 - - - M - Canada white - - - - NTD MMC, sphincteric incontinence, neurogenic bladder FZD6 FZD6 1 1 Patrizia De Marco
00107865 - - - F - Italy Italian - - - - NTD MMC, Chiari malformation type II FZD6 FZD6 1 1 Patrizia De Marco
00107866 - - - M - Italy Italian - - - - NTD sacral agenesis, spondilo-costal dysplasia, meningocele, tethered cord, hydromyelia, club foot, left kidney agenesis, convex dorso-lumbar scoliosis FZD6 FZD6 1 1 Patrizia De Marco
00107868 - - - F - Italy Italian - - - - NTD Right anterior thoracic-MC, hydromyelia, intra-dural lipoma, spondilo-costal dysplasia, complex scoliosis FZD6 FZD6 1 1 Patrizia De Marco
00107870 - - maternal aunt died for hydrocephalus - - Canada white - - - - NTD Occipital encephalocele FZD6 FZD6 1 1 Patrizia De Marco
00107871 - - - M - Canada white - - - - NTD Meningocele, dermal sinus, tethered cord FZD6 FZD6 1 1 Patrizia De Marco
00108621 - submitted, EJHG two affected sibs, detected prenatally M no United States - - - - - NTD this is an affected male fetus with spina bifida, rib abnormalities along with other minor abnormalities noted; a second fetus to the same parents had the same features - APAF1 2 2 Michael Friez
00117541 - - - - - - - - - - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117549 - - - - - - - - - - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117554 - - - - - - - - - - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117557 - - - - - - - - - - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117558 - - - - - - - - - - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117559 - - - - - - - - - - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117790 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117791 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117794 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117795 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117796 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117798 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117799 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117800 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117801 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117804 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117810 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117812 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117817 - - - - ? United States - - - - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00165298 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165300 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165301 - PubMed: Lei 2019, Journal: Lei 2019 - ? - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165302 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165303 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165304 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165307 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165308 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165309 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165310 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165311 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165312 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174404 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174405 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174406 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174407 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174408 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174409 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174410 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174411 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174412 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174413 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174414 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - - - - NTD - PTK7 PTK7 1 1 Yunping Lei
00240064 - - - - - United States - - - - - NTD myelomeningocele LRP6 LRP6 1 1 Yunping Lei
00240065 - - - - - United States - - - - - NTD myelomeningocele LRP6 LRP6 1 1 Yunping Lei
00240066 - - myelomeningocele - - United States - - - - - NTD - LRP6 LRP6 1 1 Yunping Lei
00240067 - - - - - United States - - - - - NTD myelomeningocele LRP6 LRP6 1 1 Yunping Lei
00305389 153960 - - F ? Germany - - - - - NTD Spina bifida PKP2 PKP2 1 1 Andreas Laner
00416321 Pat4 PubMed: Han 2022 analysis 140 isolated spina bifida cases F - - - - - - - NTD - CIC CIC 1 1 Yunping Lei
00416322 Pat8 PubMed: Han 2022 analysis 140 isolated spina bifida cases F - - - - - - - NTD - CIC CIC 1 1 Yunping Lei
00419201 Pat1 PubMed: Han 2022 analysis 140 isolated spina bifida cases M - - - - - - - NTD - CIC CIC 1 1 Johan den Dunnen
00419202 Pat2 PubMed: Han 2022 analysis 140 isolated spina bifida cases M - - - - - - - NTD - CIC CIC 1 1 Johan den Dunnen
00419203 Pat3/7 PubMed: Han 2022 analysis 140 isolated spina bifida cases M - - - - - - - NTD - CIC CIC 2 1 Johan den Dunnen
00419204 Pat5 PubMed: Han 2022 analysis 140 isolated spina bifida cases M - - - - - - - NTD - CIC CIC 1 1 Johan den Dunnen
00419205 Pat6 PubMed: Han 2022 analysis 140 isolated spina bifida cases M - - - - - - - NTD - CIC CIC 1 1 Johan den Dunnen
00434790 twins PubMed: Mutairi 2018 family, monozygotic twin pair F - Saudi Arabia - - - - - NTD see paper; ..., mild developmental delay; meningomyelocele; scoliosis; vertebral segmentation defect; narrow chest; talipes equinovarus; umbilical hernia; imperforated anus ; rectovaginal fistula; single kidney - SMARCC1 1 2 Johan den Dunnen
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