Simpson-Golabi-Behmel syndrome type 2
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (87 available)
Clinical features
Help- Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- High palate
- Abnormality of limbs
- Broad thumb
Broad thumb
- MedGen UID: 140880
- Concept ID: C0426891
- Finding: Finding
Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- Short finger
Short finger
- MedGen UID: 334977
- Concept ID: C1844548
- Finding: Anatomical Abnormality
Abnormality of limbs
- Broad thumb
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, severe
Intellectual disability, severe
- MedGen UID: 48638
- Concept ID: C0036857
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
- Abnormality of the respiratory system
- Neonatal respiratory distress
Neonatal respiratory distress
- MedGen UID: 924182
- Concept ID: C4281993
- Finding: Finding
Abnormality of the respiratory system
- Recurrent lower respiratory tract infections
Recurrent lower respiratory tract infections
- MedGen UID: 756211
- Concept ID: C3163798
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent respiratory infections
Recurrent respiratory infections
- MedGen UID: 812812
- Concept ID: C3806482
- Finding: Finding
Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
Recurrent upper respiratory tract infections
- MedGen UID: 154380
- Concept ID: C0581381
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Neonatal respiratory distress
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Obesity
Obesity
- MedGen UID: 18127
- Concept ID: C0028754
- Finding: Disease or Syndrome
Growth abnormality
- Obesity
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