Vertebral anomalies and variable endocrine and T-cell dysfunction
Summary
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Broad nasal tip
Broad nasal tip
- MedGen UID: 98424
- Concept ID: C0426429
- Finding: Finding
Abnormality of head or neck
- Cleft lip
Cleft lip
- MedGen UID: 1370297
- Concept ID: C4321245
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Depressed nasal tip
Depressed nasal tip
- MedGen UID: 347214
- Concept ID: C1859717
- Finding: Finding
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Low anterior hairline
Low anterior hairline
- MedGen UID: 331280
- Concept ID: C1842366
- Finding: Finding
Abnormality of head or neck
- Narrow palate
Narrow palate
- MedGen UID: 278045
- Concept ID: C1398312
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- Finding: Finding
Abnormality of head or neck
- Webbed neck
Webbed neck
- MedGen UID: 113154
- Concept ID: C0221217
- Finding: Congenital Abnormality
Abnormality of head or neck
- Broad nasal tip
- 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
- Double outlet right ventricle
Double outlet right ventricle
- MedGen UID: 41649
- Concept ID: C0013069
- Finding: Congenital Abnormality
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
- Pulmonic stenosis
Pulmonic stenosis
- MedGen UID: 408291
- Concept ID: C1956257
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Atrial septal defect
- Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
Decreased response to growth hormone stimulation test
- MedGen UID: 1784655
- Concept ID: C5539399
- Finding: Finding
Abnormality of the endocrine system
- Hypoparathyroidism
Hypoparathyroidism
- MedGen UID: 6985
- Concept ID: C0020626
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
- Abnormality of the eye
- Congenital ectopic pupil
Congenital ectopic pupil
- MedGen UID: 224790
- Concept ID: C1271219
- Finding: Congenital Abnormality
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Congenital ectopic pupil
- Abnormality of the immune system
- Abnormal B cell morphology
Abnormal B cell morphology
- MedGen UID: 867383
- Concept ID: C4021748
- Finding: Finding
Abnormality of the immune system
- Aplasia of the thymus
Aplasia of the thymus
- MedGen UID: 146900
- Concept ID: C0685894
- Finding: Congenital Abnormality
Abnormality of the immune system
- Hashimoto thyroiditis
Hashimoto thyroiditis
- MedGen UID: 151769
- Concept ID: C0677607
- Finding: Disease or Syndrome
Abnormality of the immune system
- T lymphocytopenia
T lymphocytopenia
- MedGen UID: 419385
- Concept ID: C2931322
- Finding: Finding
Abnormality of the immune system
- Abnormal B cell morphology
- Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Congenital elevation of scapula
Congenital elevation of scapula
- MedGen UID: 56291
- Concept ID: C0152438
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Contracture of the proximal interphalangeal joint of the 3rd finger
Contracture of the proximal interphalangeal joint of the 3rd finger
- MedGen UID: 867109
- Concept ID: C4021467
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Contracture of the proximal interphalangeal joint of the 4th finger
Contracture of the proximal interphalangeal joint of the 4th finger
- MedGen UID: 867145
- Concept ID: C4021503
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Hemivertebrae
Hemivertebrae
- MedGen UID: 82720
- Concept ID: C0265677
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Brachycephaly
- Abnormality of the nervous system
- Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder
- MedGen UID: 220387
- Concept ID: C1263846
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Autistic behavior
Autistic behavior
- MedGen UID: 163547
- Concept ID: C0856975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Mild global developmental delay
Mild global developmental delay
- MedGen UID: 861405
- Concept ID: C4012968
- Finding: Finding
Abnormality of the nervous system
- Attention deficit hyperactivity disorder
- Ear malformation
- Cupped ear
Cupped ear
- MedGen UID: 335186
- Concept ID: C1845447
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Overfolded helix
Overfolded helix
- MedGen UID: 325239
- Concept ID: C1837731
- Finding: Finding
Ear malformation
- Cupped ear
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
- Neoplasm
- Glabellar hemangioma
Glabellar hemangioma
- MedGen UID: 340224
- Concept ID: C1854408
- Finding: Neoplastic Process
Neoplasm
- Glabellar hemangioma
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