Disease #00193 (CHARGE (CHARGE syndrome), OMIM:214800)

Official abbreviation CHARGE
Name CHARGE syndrome
OMIM ID 214800
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 30
Phenotype entries for this disease 19
Associated with 2 genes CHD7, SEMA3E
Associated tissues -
Disease features -
Remarks -
Date created 2013-09-09 16:22:06 +02:00 (CEST)
Date last edited 2020-06-17 14:19:19 +02:00 (CEST)


Individuals

30 entries on 1 page. Showing entries 1 - 30.
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00002434 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE snydrome M ? France - - - - - CHARGE, MFDGA;MFDM polyhydramnios; birth length of -1SD; birth head circumference<-2; weight at 8y of +1SD; height at 8y of +1SD; head circimference at 8y<-4SD; mild malr hypoplasia; mild mandibular hypoplasia; cleft palate(submucous); dysplastic external ears; conductive hearing loss; epicanthic folds; mild delayed psycho/motor development; oesophageal atresia type C; unilateral lateral semicircular canal agenesis;; no seizures CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002436 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - - - - CHARGE, MFDGA;MFDM polyhydramnios; birth height of 0SD; birth head circumference of -2SD; weight at 4y of +1SD; height at 4y of 0SD; head circumference at 4y of -4SD; facial asymmetry; mandibular hypoplasia; dysplastic external ears; bilateral auditory canal atresia/stenosis; sensorineural hearing loss; moderate delayed psycho/motor development; oesophageal atresia; lateral semicircular canal agenesis; no seizures EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002437 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - - - - CHARGE, MFDGA;MFDM IUGR; weight at 11y of +1SD; height at 11y of +3SD; head circumference at 11y<-4SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; auditory canal stresia/stenosis; moderate delayed psycho/motor development; ASD; genital anomalies; tooth agenesis; no seizures CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002438 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - - - - CHARGE - CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002439 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - - - - CHARGE, MFDGA;MFDM birth height of -2SD; birth head circumference of -3SD; weight at 7y of +1SD; height at 7y of -1.5SD; head circumference at 7y of -2SD; malar hypoplasia; mandibular hypoplasia; microtia; unilateral auditory canal atresia/stenosis; sensorineural hearing loss; strabismus; moderate delayed psycho/motor development; pectus carinatum; seizures CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002442 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome F ? France - - - - - CHARGE, MFDGA;MFDM termination of pregnancy at 29.5w; weight of -1SD; head circumference of -1.5SD; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; oesophageal atresia type C; delayed gyration and retro thyoid thymic residues CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002452 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - - - - CHARGE, MFDGA;MFDM polyhydramnios; IUGR; birth head circumference of 0SD; weight at 2.5y of +0.5SD; height at 2.5y of +1SD; head circumference at 2.5y of +1SD; cayler facial asymmetry; unilateral microtia; unilateral auditory canal atresia/stenosis; unilateral hearing loss; ASD; VSD; unilateral thumb hypoplasia; oesophageal atresia type C; abnormal ossicles and semicircular canals; agenesis of first cervical vertebrae; kyphoscoliosis and sacral dimple; no seizures CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00051495 - under review - M no Australia white - - - - CHARGE prominent scapulae/shoulder girdle weakness, mild learning difficulties, subtle dysmorphic features including small ears and hockey stick palmar creases, aplasia of the superior semicircular canal bilaterally, dysplastic horizontal canals CHD7 CHD7 1 1 Sandra Cooper
00080856 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - CHARGE CHARGE syndrome (OMIM:214800) CHD7 CHD7 1 1 Daniel Trujillano
00267237 - - - - - - - - - - - CHARGE - CHD7 CHD7 1 1 Ah Reum Kim
00303637 Pat4 PubMed: Biard 2021 Prenatal - - Belgium - - - - - CHARGE Choanal atresia (HP:0000453) Abnormality of the face (HP:0000271) Oral cleft (HP:0000202) Abnormal ear morphology (HP:0031703) CHD7 CHD7 1 1 Valerie Benoit
00303638 Pat5 PubMed: Biard 2021 - - - Belgium - - - - - CHARGE Abnormal heart morphology (HP:0001627) Choanal atresia (HP:0000453) Abnormality of brain morphology (HP:0012443) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703) CHD7 CHD7 1 1 Valerie Benoit
00303639 Pat6 PubMed: Biard 2021 - - - Belgium - - - - - CHARGE Abnormal heart morphology (HP:0001627) Choanal atresia (HP:0000453) Intrauterine growth retardation (HP:0001511) Abnormality of brain morphology (HP:0012443) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703) Polyhydramnios (HP:0001561) CHD7 CHD7 1 1 Valerie Benoit
00303640 Pat3 PubMed: Biard 2021 - F - Belgium - - - - - CHARGE Abnormal heart morphology (HP:0001627) Choanal atresia (HP:0000453) Abnormality of the genital system (HP:0000078) Abnormality of the kidney (HP:0000077) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703) CHD7 CHD7 1 1 Valerie Benoit
00303641 Pat7 PubMed: Biard 2021 - M - Belgium - - - - - CHARGE Abnormal heart morphology (HP:0001627) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703) Polyhydramnios (HP:0001561) CHD7 CHD7 1 1 Valerie Benoit
00304128 Pat2 PubMed: Biard 2021 - M - Belgium - - - - - CHARGE Abnormal heart morphology (HP:0001627) Abnormality of the genital system (HP:0000078) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703) Polyhydramnios (HP:0001561) CHD7 CHD7 1 1 Valerie Benoit
00304129 Pat10 PubMed: Biard 2021 - - - Belgium - - - - - CHARGE Abnormal heart morphology (HP:0001627) Choanal atresia (HP:0000453) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703) Polyhydramnios (HP:0001561) CHD7 CHD7 1 1 Valerie Benoit
00306201 99 - - M - China - - - - - CHARGE - CHD7 CHD7 1 1 Sha Hong
00324289 patient PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Mexico Hispanic - - - - CHARGE see paper; ... - CHD7 1 1 Johan den Dunnen
00391783 129P - - M no Spain - - - - - CHARGE - - CHD7 1 1 Alejandro Brea-Fernández
00416378 204770 - - F no Germany - - - - - CHARGE Abnormal fetal cardiovascular morphology, Hypoplastic left heart, Aortic valve stenosis, Congenital malformation of the left heart, Abnormal fetal morphology CHD7 CHD7 1 1 Andreas Laner
00424970 Pat1 PubMed: Biard 2021 - F - Belgium - - - - - CHARGE - CHD7 CHD7 1 1 Johan den Dunnen
00424971 Pat8 PubMed: Biard 2021 - M - Belgium - - - - - CHARGE - CHD7 CHD7 1 1 Johan den Dunnen
00424972 Pat9 PubMed: Biard 2021 - F - Belgium - - - - - CHARGE - CHD7 CHD7 1 1 Johan den Dunnen
00435239 260515 - - F no Germany - - - - - CHARGE Intellectual disability, mild, Hip dysplasia, Macrocephaly, Gait disturbance, Motor delay, Delayed speech and language development CHD7 CHD7 1 1 Andreas Laner
00435364 232779 - - M no Germany - - - - - CHARGE Abnormality of the genitourinary system, Prelingual sensorineural hearing impairment, Preaxial hand polydactyly, Global developmental delay, Plagiocephaly, Atrial septal defect, Cranial nerve paralysis, Infantile muscular hypotonia CHD7 CHD7 1 1 Andreas Laner
00449773 - - - F - - (not applicable) white - - - - CHARGE HP:0000453, HP:0001627 - CHD7 1 1 Marketa Wayhelova
00454674 - - - F - - (not applicable) white - - - - CHARGE HP:0000104, HP:0001508, HP:0000271, HP:0004484 - CHD7 1 1 Marketa Wayhelova
00456088 - - - F - - (not applicable) white - - - - CHARGE HP:0200138, HP:0009603, HP:0000377, HP:0001643, HP:0012020, HP:0002901, HP:0010515 - CHD7 1 1 Marketa Wayhelova
00464285 323529 - prenatal trio exome at 20+5 ? no Germany - - - - - CHARGE Cleft lip and palate in prenatal sonography CHD7 CHD7 1 1 Andreas Laner
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