Spinal muscular atrophy with congenital bone fractures 2
Summary
Available tests
Clinical tests (10 available)
Clinical features
Help- Abnormality of prenatal development or birth
- Decreased fetal movement
Decreased fetal movement
- MedGen UID: 68618
- Concept ID: C0235659
- Finding: Finding
Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Premature birth
Premature birth
- MedGen UID: 57721
- Concept ID: C0151526
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Decreased fetal movement
- Abnormality of the cardiovascular system
- Patent ductus arteriosus
Patent ductus arteriosus
- MedGen UID: 4415
- Concept ID: C0013274
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent foramen ovale
Patent foramen ovale
- MedGen UID: 8891
- Concept ID: C0016522
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent ductus arteriosus
- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Dysphagia
- Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita
- MedGen UID: 1830310
- Concept ID: C5779613
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter
- MedGen UID: 336019
- Concept ID: C1843700
- Finding: Finding
Abnormality of the musculoskeletal system
- Multiple prenatal fractures
Multiple prenatal fractures
- MedGen UID: 377844
- Concept ID: C1853171
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Severe muscular hypotonia
Severe muscular hypotonia
- MedGen UID: 326544
- Concept ID: C1839630
- Finding: Finding
Abnormality of the musculoskeletal system
- Spinal muscular atrophy
Spinal muscular atrophy
- MedGen UID: 7755
- Concept ID: C0026847
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
- Abnormality of the nervous system
- Abnormal cortical gyration
Abnormal cortical gyration
- MedGen UID: 343457
- Concept ID: C1856019
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Axonal loss
Axonal loss
- MedGen UID: 316962
- Concept ID: C1832338
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Peripheral axonal neuropathy
Peripheral axonal neuropathy
- MedGen UID: 266071
- Concept ID: C1263857
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Abnormal cortical gyration
- Abnormality of the respiratory system
- Neonatal respiratory distress
Neonatal respiratory distress
- MedGen UID: 924182
- Concept ID: C4281993
- Finding: Finding
Abnormality of the respiratory system
- Pulmonary hypoplasia
Pulmonary hypoplasia
- MedGen UID: 78574
- Concept ID: C0265783
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Respiratory failure
Respiratory failure
- MedGen UID: 257837
- Concept ID: C1145670
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Neonatal respiratory distress
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