Phenotypes for disease #05339 (CHTD (disease, heart, congenital (CHTD)))

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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33 entries on 1 page. Showing entries 1 - 33.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000105537	congenital heart defect; double outlet right ventricle and ventricular septal defect	-	-	Familial, autosomal dominant	-	-	-	-	Yi-Qing Yang	00132767
0000267372	small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Cafe-au-lait spot (HP:0000957), Abnormal heart morphology (HP:0001627), Bicuspid aortic valve (HP:0001647), Abnormal mitral valve morphology (HP:0001633), Abnormal tricuspid valve morphology (HP:0001702), Thoracic aortic aneurysm (HP:0012727), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), no Pectus excavatum (-HP:0000767), Short palm (HP:0004279), Tapered finger (HP:0001182), Sandal gap (HP:0001852), Hypotonia unknown (?HP:0001252), Hearing impairment unknown (?HP:0000365), no Neurodevelopmental delay (-HP:0012758)	congenital heart defect	CHDT2	Isolated (sporadic)	16y	-	-	-	Aafke Engwerda	00372043
0000267373	small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Thick lower lip vermilion (HP:0000179), Long philtrum (HP:0000343), Abnormal heart morphology (HP:0001627), Atrial septal defect (HP:0001631), Ventricular septal defect (HP:0001629), Cardiomyopathy unknown (?HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Cryptorchidism (HP:0000028), Feeding difficulties (HP:0011968), Hypermetropia (HP:0000540), Hearing impairment unknown (?HP:0000365), Neurodevelopmental delay (HP:0012758)	congenital heart defect	CHDT2	Unknown	15y	-	-	-	Aafke Engwerda	00372044
0000267374	broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Abnormal heart morphology (HP:0001627), Mitral regurgitation (HP:0001653), Mitral stenosis (HP:0001718), Hip dysplasia (HP:0001385), no Neurodevelopmental delay (-HP:0012758)	congenital heart defect	CHDT2	Unknown	36y	-	-	-	Aafke Engwerda	00372045
0000267375	not small for gestational age (-HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Wide mouth (HP:0000154), Abnormal heart morphology (HP:0001627), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Hip dysplasia (HP:0001385), Cryptorchidism (HP:0000028), Neurodevelopmental delay (HP:0012758)	congenital heart defect	CHDT2	Familial, autosomal dominant	8y	-	-	-	Aafke Engwerda	00372046
0000267376	not small for gestational age (-HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), High palate (HP:0000218), Abnormal heart morphology (HP:0001627), Bicuspid aortic valve (HP:0001647), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), no Joint hypermobility (-HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Hypotonia (HP:0001252), no Neurodevelopmental delay (-HP:0012758)	congenital heart defect	CHDT2	Familial, autosomal dominant	5y	-	-	-	Aafke Engwerda	00372047
0000267377	46y-deceased (cause unknown); small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), Broad forehead (HP:0000337), Hypertelorism unknown (?HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position unknown (?HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Bicuspid aortic valve (HP:0001647), Pulmonic stenosis (HP:0001642), Arrhythmia (HP:0011675), Atrial flutter (HP:0004749), Hearing impairment (HP:0000365), Neurodevelopmental delay unknown (?HP:0012758)	congenital heart defect	CHDT2	Unknown	46y	-	-	-	Aafke Engwerda	00372048
0000267378	small for gestational age unknown (?HP:0001518), no Short stature (-HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), no Abnormal heart morphology (-HP:0001627), no Cardiomyopathy (-HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)	congenital heart defect	CHDT2	Familial, autosomal dominant	37y	-	-	-	Aafke Engwerda	00372049
0000267379	small for gestational age (HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Atrial septal defect (HP:0001631), Mitral valve prolapse (HP:0001634), Tricuspid valve prolapse (HP:0001704), Cardiomyopathy (HP:0001638), Arrhythmia (HP:0011675), Supraventricular tachycardia (HP:0004755), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Swan neck-like deformities of the fingers (HP:0006150), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)	congenital heart defect	CHDT2	Familial, autosomal dominant	29y	-	-	-	Aafke Engwerda	00372050
0000267380	small for gestational age (HP:0001518), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Pulmonic stenosis (HP:0001642), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), no Neurodevelopmental delay (-HP:0012758)	congenital heart defect	CHDT2	Familial, autosomal dominant	2y	-	-	-	Aafke Engwerda	00372051
0000267381	small for gestational age (HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), no Hypotonia (-HP:0001252), no Neurodevelopmental delay (-HP:0012758)	congenital heart defect	CHDT2	Familial, autosomal dominant	5y	-	-	-	Aafke Engwerda	00372052
0000267382	small for gestational age (HP:0001518), Short stature (HP:0004322), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Tricuspid regurgitation (HP:0005180), Tricuspid valve prolapse (HP:0001704), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), Inguinal hernia (HP:0000023), Neurodevelopmental delay (HP:0012758)	congenital heart defect	CHDT2	Familial, autosomal dominant	6y	-	-	-	Aafke Engwerda	00372053
0000267383	not small for gestational age (-HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), no Broad forehead (-HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Joint hypermobility (HP:0001382), Brachydactyly (HP:0001156), Lunate-triquetral fusion (HP:0004251), Abnormality of the os naviculare pedis (HP:0100339), Short toe (HP:0001831), Broad hallux (HP:0010055), Hypotonia (HP:0001252), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)	congenital heart defect	CHDT2	Isolated (sporadic)	35y	-	-	-	Aafke Engwerda	00372054
0000267384	not small for gestational age (-HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), Abnormal heart morphology (HP:0001627), Abnormal mitral valve morphology (HP:0001633), Mitral valve prolapse (HP:0001634), Tricuspid regurgitation (HP:0005180), Tricuspid valve prolapse (HP:0001704), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Broad foot (HP:0001769), Hypotonia unknown (?HP:0001252), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)	congenital heart defect	CHDT2	Familial, autosomal dominant	6y	-	-	-	Aafke Engwerda	00372055
0000267385	not small for gestational age (-HP:0001518), no Short stature (-HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), no Ears abnormal position (-HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Synophrys (HP:0000664), Abnormal heart morphology unknown (?HP:0001627), Cardiomyopathy unknown (?HP:0001638), Arrhythmia unknown (?HP:0011675), Joint hypermobility (HP:0001382), Pes planus unknown (?HP:0001763), Pectus excavatum unknown (?HP:0000767), Feeding difficulties (HP:0011968), no Hypotonia (-HP:0001252), no Hearing impairment (-HP:0000365), Neurodevelopmental delay (HP:0012758)	congenital heart defect	CHDT2	Isolated (sporadic)	3y	-	-	-	Aafke Engwerda	00372056
0000279222	see paper; ..., tetralogy of Fallot, pulmonary atresia, myxomatous and prolapsed mitral and tricuspid valves, supraventricular tachycardia	tetralogy of Fallot	-	Familial, autosomal dominant	-	-	19w fetal acho tetralogy of Fallot	-	Johan den Dunnen	00385427
0000279223	see paper; ..., icuspid aortic valve, ventricular septal defect, myxomatous and prolapsed mitral, and tricuspid valves	-	-	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00385428
0000279224	see paper; ..., mitral valve regurgitation, myxomatous and prolapsed mitral and tricuspid valves, SVT, atrial fibrillation	-	-	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00385429
0000279238	aortic stenosis, atrial fibrillation, required an aortic valve replacement	-	-	Familial, autosomal dominant	67y	-	-	-	Johan den Dunnen	00385443
0000279246	see paper; ..., mild pulmonary valve stenosis, mild aortic root dilatation, atrial septal defect, ventricular septal defect, patent ductus arteriosus (closed surgically); polyvalvular syndrome, involvement both semilunar and both atrioventricular valves; hypotonia, myopia, soft pale skin, joint hypermobility, mild facial dysmorphism	-	CHTD2	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00385451
0000279344	facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; aortic valve dystrophy/insufficiency; atrial septum aneurysm; dilated cardiomyopathy; arrhythmias; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short limbs; lumbar/sacral anomalies; joint contractures/limitations	congenital heart disease	CHTD2	Familial, autosomal dominant	48y	-	-	-	Johan den Dunnen	00385549
0000279443	see paper; ..., mild mitral and tricuspid regurgitation, mild aortic valve stenosis with aortic regurgitation	congenital heart disease	-	Familial, autosomal dominant	31y	-	-	-	Johan den Dunnen	00385648
0000279486	hypoplastic aortic arch, coarctation aorta, ventricular septal defect; mild-moderate developmental dealy; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; strabism; hypospadias, epicantic folds, micrognathia, small ears	congenital heart defect	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00385431
0000279487	tricuspid and pulmonic valve dysplasia, mitral valve prolapse, premature ventricular contractions; mild developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; astigmatism; frontal bossing, bitemporal narrowing, palpebral fissures short and slant up, hooded eyelids, sparse eyelashes, infraorbital folds, anteverted nares, thin upper lip, fetal pads (hands), low set dysplastic ears	congenital heart defect	-	Unknown	-	-	-	-	Johan den Dunnen	00385432
0000279488	atrial septal defect typeII; mild developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal oral cavity; retinal pigment changes, minimal optic nerve hypoplasia; sacral dimple, narrow thorax, frontal bossing, bitemporal narrowing, palpebral fissures short and slant up, sparse eyelashes, infraorbital folds, anteverted nares, thin upper lip, flat long philtrum, low posterior hair line, low set dysplastic ears	congenital heart defect	-	Unknown	-	-	-	-	Johan den Dunnen	00385433
0000279489	tricuspid insufficiency, atrial septal defect, patent ductus arteriosus; mild developmental dealy; no microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; high palate; normal eyes; no hearing loss; facial asymmetry, short palpebral fissures, medial flare eyebrows, anteverted nares, thin upper lip, long and smooth philtrum, sandal gap, cupshaped left ear	congenital heart defect	-	Unknown	-	-	-	-	Johan den Dunnen	00385434
0000279490	ventricular septal defect; mild developmental dealy; no intra‐uterine growth retardation; post‐natal growth retardation; normal oral cavity; short nose, full cheeks, smooth philtrum, thin upper lip, almond eyes, low set protruding ears, dyspl astic left ear	congenital heart defect	-	Unknown	-	-	-	-	Johan den Dunnen	00385435
0000279491	centrovalvular insufficiency of aortic and pulmonic valve; no developmental dealy; microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; phimosis; high forehead; almond‐shaped, upslanting palpebral fissures; midface hypoplasia; micrognathia; large, normally placed ears	congenital heart defect	-	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00385436
0000279492	mild aortic and mitral valve stenosis, sinus tachycardia; no developmental dealy; post‐natal growth retardation; facial features similar to her son	congenital heart defect	-	Unknown	-	-	-	-	Johan den Dunnen	00385437
0000279498	facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; bicuspid aortic valve; myocardial non-compaction; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; small extremities; short limbs; lumbar/sacral anomalies	congenital heart defect	-	Familial, autosomal dominant	28y	-	-	-	Johan den Dunnen	00385550
0000279499	facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; aortic valve dystrophy/insufficiency; aortic root dilatation; dilated cardiomyopathy; arrhythmias; other soft connective tissues; abnormal skin texture; mild joint hypermobility; habitus/orthopedics; short stature; small extremities; short limbs; joint contractures/limitations	congenital heart defect	-	Familial, autosomal dominant	60y	-	-	-	Johan den Dunnen	00385551
0000279500	facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; aortic valve dystrophy/insufficiency; atrial septum aneurysm; arrhythmias; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; short limbs; neurinoma; palmoplantar keratoderma	congenital heart defect, palmoplantar keratoderma	CHTD2;MDM	Isolated (sporadic)	15y	-	-	-	Johan den Dunnen	00385552
0000314437	patent ductus arteriosus, bicuspid aortic valve and ventricular septal defect as well as hereditary hemorrhagic telangiectasia syndrome and Juvenile polyposis syndrome.	-	-	Familial, autosomal dominant	-	-	-	-	Yi-Qing Yang	00423232

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Global Variome shared LOVD

NAA10 (N(alpha)-acetyltransferase 10, NatA catalyti...)