Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Synonyms
- CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE; CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM; CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM; CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE; Cardiogenital syndrome; Congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome; Congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism; Familial cardiomyopathy, hypogonadism, and collagenoma; Genital anomaly with cardiomyopathy; Malouf syndrome; Najjar syndrome
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Narrow nose
Narrow nose
- MedGen UID: 98086
- Concept ID: C0426422
- Finding: Finding
Abnormality of head or neck
- Short chin
Short chin
- MedGen UID: 784514
- Concept ID: C3697248
- Finding: Finding
Abnormality of head or neck
- Narrow nose
- Abnormality of the cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral regurgitation
Mitral regurgitation
- MedGen UID: 7670
- Concept ID: C0026266
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Primary dilated cardiomyopathy
Primary dilated cardiomyopathy
- MedGen UID: 2880
- Concept ID: C0007193
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cardiomyopathy
- Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
Hypergonadotropic hypogonadism
- MedGen UID: 184926
- Concept ID: C0948896
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
- Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
- Abnormality of the integument
- Poikiloderma
Poikiloderma
- MedGen UID: 97905
- Concept ID: C0392777
- Finding: Disease or Syndrome
Abnormality of the integument
- Poor wound healing
Poor wound healing
- MedGen UID: 377525
- Concept ID: C1851789
- Finding: Finding
Abnormality of the integument
- Sclerodactyly
Sclerodactyly
- MedGen UID: 472893
- Concept ID: C0150988
- Finding: Disease or Syndrome
Abnormality of the integument
- Telangiectasia of the skin
Telangiectasia of the skin
- MedGen UID: 867629
- Concept ID: C4022018
- Finding: Finding
Abnormality of the integument
- Poikiloderma
- Abnormality of the musculoskeletal system
- Down-sloping shoulders
Down-sloping shoulders
- MedGen UID: 346461
- Concept ID: C1856872
- Finding: Finding
Abnormality of the musculoskeletal system
- Finger joint contracture
Finger joint contracture
- MedGen UID: 575400
- Concept ID: C0343146
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Lipodystrophy
Lipodystrophy
- MedGen UID: 6111
- Concept ID: C0023787
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Recurrent shoulder dislocation
Recurrent shoulder dislocation
- MedGen UID: 592396
- Concept ID: C0409415
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Short clavicles
Short clavicles
- MedGen UID: 96529
- Concept ID: C0426799
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Down-sloping shoulders
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability
- Ear malformation
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Ear malformation
- Microtia
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