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Items: 7

1.

Dilated cardiomyopathy 1S

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. [from MONDO]

MedGen UID:
371831
Concept ID:
C1834481
Disease or Syndrome
2.

Keutel syndrome

Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014). [from OMIM]

MedGen UID:
383722
Concept ID:
C1855607
Disease or Syndrome
3.

Ritscher-Schinzel syndrome 2

Ritscher-Schinzel syndrome (RSS) is a clinically recognizable condition that includes the cardinal findings of craniofacial features, cerebellar defects, and cardiovascular malformations resulting in the alternate diagnostic name of 3C syndrome. Dysmorphic facial features may include brachycephaly, hypotonic face with protruding tongue, flat appearance of the face on profile view, short midface, widely spaced eyes, downslanted palpebral fissures, low-set ears with overfolding of the upper helix, smooth or short philtrum, and high or cleft palate. Affected individuals also typically have a characteristic metacarpal phalangeal profile showing a consistent wavy pattern on hand radiographs. RSS is associated with variable degrees of developmental delay and intellectual disability. Eye anomalies and hypercholesterolemia may be variably present. [from GeneReviews]

MedGen UID:
897005
Concept ID:
C4225419
Disease or Syndrome
4.

Seckel syndrome 9

Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene. [from MONDO]

MedGen UID:
907155
Concept ID:
C4225212
Disease or Syndrome
5.

Heterotaxy, visceral, 7, autosomal

Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). [from OMIM]

MedGen UID:
902629
Concept ID:
C4225217
Disease or Syndrome
6.

Diaphragmatic hernia 4, with cardiovascular defects

Diaphragmatic hernia-4 with cardiovascular defects (DIH4) is an autosomal recessive congenital anomaly syndrome characterized by the presence of diaphragmatic hernia or eventration apparent at birth. Affected infants have associated pulmonary hypoplasia and respiratory insufficiency resulting in death in infancy. Most also have variable cardiovascular defects, including aortopulmonary window or conotruncal anomalies. Dysmorphic facial features and mild distal limb anomalies are sometimes observed (Beecroft et al., 2021). For a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 (142340). [from OMIM]

MedGen UID:
1823983
Concept ID:
C5774210
Disease or Syndrome
7.

Pulmonary artery hypoplasia

Underdevelopment of the pulmonary artery. [from HPO]

MedGen UID:
75585
Concept ID:
C0265910
Congenital Abnormality
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