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

Official abbreviation CHARGE
Name CHARGE syndrome
OMIM ID 214800
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 18
Phenotype entries for this disease 11
Associated with 2 genes CHD7, SEMA3E
Associated tissues -
Disease features -
Remarks -


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18 entries on 1 page. Showing entries 1 - 18.
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00002434 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE snydrome M ? France - - 0 - - 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; CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002436 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - 0 - - 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 EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002437 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - 0 - - 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 CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002438 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - 0 - - CHARGE - CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002439 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome ? ? France - - 0 - - 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 CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00002442 - PubMed: Gordon 2012, Journal: Gordon 2012 initial diagnosis of CHARGE syndrome F ? France - - 0 - - 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 - - 0 - - 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 CHD7, EFTUD2 EFTUD2 1 1 Dennis E. Bulman
00051495 - under review - M no Australia Caucasian - 0 - - 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 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - CHARGE CHARGE syndrome (OMIM:214800) CHD7 CHD7 1 1 Daniel Trujillano
00267237 - - - - - - - - 0 - - CHARGE - CHD7 CHD7 1 1 Ah Reum Kim
00303637 - - Prenatal - - - - - 0 - - CHARGE - CHD7 CHD7 1 1 Valerie BENOIT
00303638 - - - - - - - - - - - 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 - - - - - - - - - - - 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 - - - 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 - - - M - - - - - - - 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 - - - M - - - - - - - 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 - - - - - - - - - - - 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
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