Meckel syndrome, type 4
- Synonyms
- CEP290-Related Meckel Syndrome; MECKEL-GRUBER SYNDROME, TYPE 4
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (104 available)
Clinical features
Help- Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
- Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- Postaxial hand polydactyly
- Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Atrial septal defect
- Abnormality of the digestive system
- Bile duct proliferation
Bile duct proliferation
- MedGen UID: 120603
- Concept ID: C0267818
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Bile duct proliferation
- Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Microphthalmia
- Abnormality of the genitourinary system
- Renal cyst
Renal cyst
- MedGen UID: 854361
- Concept ID: C3887499
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal cyst
- Abnormality of the musculoskeletal system
- Bowing of the long bones
Bowing of the long bones
- MedGen UID: 340849
- Concept ID: C1855340
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Dandy-Walker malformation
Dandy-Walker malformation
- MedGen UID: 419183
- Concept ID: C2931867
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the long bones
- Abnormality of the nervous system
- Agenesis of cerebellar vermis
Agenesis of cerebellar vermis
- MedGen UID: 1768774
- Concept ID: C5437781
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Anencephaly
Anencephaly
- MedGen UID: 8068
- Concept ID: C0002902
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Encephalocele
Encephalocele
- MedGen UID: 1646412
- Concept ID: C4551722
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Meningocele
Meningocele
- MedGen UID: 44356
- Concept ID: C0025299
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Molar tooth sign on MRI
Molar tooth sign on MRI
- MedGen UID: 400670
- Concept ID: C1865060
- Finding: Finding
Abnormality of the nervous system
- Agenesis of cerebellar vermis
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Fetal growth restriction
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