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 -
Individuals reported having this disease 80
Phenotype entries for this disease 56
Associated with 5 genes CCL2, FUZ, T, VANGL1, VANGL2
Associated tissues -
Disease features -
Remarks -


Individuals

80 entries on 1 page. Showing entries 1 - 80.
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00057254 - - - M no Italy - - 0 - - NTD - TNIP1 TNIP1 1 1 Eugenio Sangiorgi
00057255 - - - M no Italy - - 0 - - NTD - TNIP1 TNIP1 1 1 Eugenio Sangiorgi
00100372 - - - - - - - - 0 - - NTD Myelomeningocele GRHL3 GRHL3 1 8 Philippe Lemay
00100500 - - - F yes - - - 0 - - NTD 1 Child has Cleft lip/palate, scoliosis 1 Child has Renal cyst, scoliosis GRHL3 GRHL3 1 2 Philippe Lemay
00100501 - - - M ? - - - 0 - - NTD Myelomeningocele with renal cyst and scoliosis GRHL3 GRHL3 1 1 Philippe Lemay
00100502 - - - F ? - - - 0 - - NTD Myelomeningocele GRHL3 GRHL3 1 1 Philippe Lemay
00100503 - - - F ? - - - 0 - - NTD Myelomeningocele GRHL3 GRHL3 1 1 Philippe Lemay
00100504 - - - M ? Italy - - 0 - - NTD Myelomeningocele GRHL3 GRHL3 1 1 Philippe Lemay
00100505 - - - F ? Italy - - 0 - - NTD Myelomeningocele GRHL3 GRHL3 1 1 Philippe Lemay
00100506 - - - F ? Italy - - 0 - - NTD Myelomeningocele with neurogenic bladder GRHL3 GRHL3 1 1 Philippe Lemay
00106647 - - - F - China Chinese - 0 - - 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 - 0 - - 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 - 0 - - 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 - 0 - - NTD Neural tube defects DACT1 DACT1 1 1 Yunping Lei
00106651 - - - - - China Chinese - 0 - - NTD Neural tube defects DACT1 DACT1 1 1 Yunping Lei
00107757 - - - M - China Han Chinese - 0 - - NTD anencephaly; neural tube defects SEC24B SEC24B 1 1 Hongyan Wang
00107758 - - - F - China Chinese - 0 - - NTD lumbosacral myelomenigocele, hydrocephalus; neural tube defects SEC24B SEC24B 1 1 Hongyan Wang
00107759 - - - M - China Chinese - 0 - - NTD occipital encephalocele, bilateral atelectasis, visceral congestion; neural tube defects SEC24B SEC24B 1 1 Hongyan Wang
00107760 - - - M - China Chinese - 0 - - NTD lumbosacral myelocystocele, talipes equinovarus, lung lobe branching malformation, chest deformity; neural tube defects SEC24B SEC24B 1 1 Hongyan Wang
00107853 - - - M - Italy Italian - 0 - - NTD Myelomeningocele FZD3 FZD3 1 1 Patrizia De Marco
00107855 - - - F - Italy Italian - 0 - - 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 - 0 - - NTD Myelomeningocele FZD3 FZD3 1 1 Patrizia De Marco
00107858 - - - F - Italy Italian - 0 - - NTD sacral agenesis, lumbo-sacral LipoMMC, tethered cord, right bladder-ureteral reflux FZD6 FZD6 3 1 Patrizia De Marco
00107859 - - - F - Italy Italian - 0 - - NTD Lumbo-sacral LipoMMC FZD6 FZD6 3 1 Patrizia De Marco
00107861 - - - F - Italy Italian - 0 - - 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 - 0 - - NTD Lumbo-sacral myelomeningocele, hydrocephalus FZD6 FZD6 1 1 Patrizia De Marco
00107864 - - - M - Canada Caucasian - 0 - - NTD MMC, sphincteric incontinence, neurogenic bladder FZD6 FZD6 1 1 Patrizia De Marco
00107865 - - - F - Italy Italian - 0 - - NTD MMC, Chiari malformation type II FZD6 FZD6 1 1 Patrizia De Marco
00107866 - - - M - Italy Italian - 0 - - 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 - 0 - - 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 Caucasian - 0 - - NTD Occipital encephalocele FZD6 FZD6 1 1 Patrizia De Marco
00107871 - - - M - Canada Caucasian - 0 - - 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 - 0 0 - - 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 - - - - - - - - 0 - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117549 - - - - - - - - 0 - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117554 - - - - - - - - 0 - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117557 - - - - - - - - 0 - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117558 - - - - - - - - 0 - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117559 - - - - - - - - 0 - - NTD spinal bifida;neural tube defects SCRIB SCRIB 1 1 Yunping Lei
00117790 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117791 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117794 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117795 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117796 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117798 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117799 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117800 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117801 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117804 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117810 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117812 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00117817 - - - - ? United States - - 0 - - NTD myelomeningocele CELSR1 CELSR1 1 1 Yunping Lei
00165298 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165300 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165301 - PubMed: Lei 2019, Journal: Lei 2019 - ? - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165302 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165303 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165304 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165307 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165308 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165309 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165310 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165311 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00165312 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174404 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174405 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174406 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174407 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174408 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174409 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174410 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174411 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174412 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174413 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00174414 - PubMed: Lei 2019, Journal: Lei 2019 - - - - China - 0 - - NTD - PTK7 PTK7 1 1 Yunping Lei
00240064 - - - - - United States - - 0 - - NTD myelomeningocele LRP6 LRP6 1 1 Yunping Lei
00240065 - - - - - United States - - 0 - - NTD myelomeningocele LRP6 LRP6 1 1 Yunping Lei
00240066 - - myelomeningocele - - United States - - 0 - - NTD - LRP6 LRP6 1 1 Yunping Lei
00240067 - - - - - United States - - 0 - - NTD myelomeningocele LRP6 LRP6 1 1 Yunping Lei
00305389 153960 - - F ? Germany - - 0 - - NTD Spina bifida PKP2 PKP2 1 1 Andreas Laner
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