Immunoskeletal dysplasia with neurodevelopmental abnormalities
Available tests
Clinical tests (9 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
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- Finding: Finding
Abnormality of head or neck
- Prominent nose
Prominent nose
- MedGen UID: 98423
- Concept ID: C0426415
- Finding: Finding
Abnormality of head or neck
- Broad nasal tip
- Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Coxa valga
Coxa valga
- MedGen UID: 116080
- Concept ID: C0239137
- Finding: Finding
Abnormality of limbs
- Delayed ossification of carpal bones
Delayed ossification of carpal bones
- MedGen UID: 374771
- Concept ID: C1841684
- Finding: Finding
Abnormality of limbs
- Dislocated radial head
Dislocated radial head
- MedGen UID: 488814
- Concept ID: C0265563
- Finding: Congenital Abnormality
Abnormality of limbs
- Single transverse palmar crease
Single transverse palmar crease
- MedGen UID: 96108
- Concept ID: C0424731
- Finding: Finding
Abnormality of limbs
- Brachydactyly
- Abnormality of the digestive system
- Hepatic cysts
Hepatic cysts
- MedGen UID: 82761
- Concept ID: C0267834
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Imperforate anus
Imperforate anus
- MedGen UID: 1997
- Concept ID: C0003466
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Hepatic cysts
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the immune system
- Decreased circulating antibody level
Decreased circulating antibody level
- MedGen UID: 892481
- Concept ID: C4048270
- Finding: Finding
Abnormality of the immune system
- Eosinophilia
Eosinophilia
- MedGen UID: 41824
- Concept ID: C0014457
- Finding: Disease or Syndrome
Abnormality of the immune system
- Erythroderma
Erythroderma
- MedGen UID: 3767
- Concept ID: C0011606
- Finding: Disease or Syndrome
Abnormality of the immune system
- Lymphopenia
Lymphopenia
- MedGen UID: 7418
- Concept ID: C0024312
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Severe combined immunodeficiency disease
Severe combined immunodeficiency disease
- MedGen UID: 88328
- Concept ID: C0085110
- Finding: Disease or Syndrome
Abnormality of the immune system
- Decreased circulating antibody level
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Cervical instability
Cervical instability
- MedGen UID: 350138
- Concept ID: C1863314
- Finding: Finding
Abnormality of the musculoskeletal system
- Epiphyseal dysplasia
Epiphyseal dysplasia
- MedGen UID: 95932
- Concept ID: C0392476
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis
- MedGen UID: 374176
- Concept ID: C1839254
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Metaphyseal dysplasia
Metaphyseal dysplasia
- MedGen UID: 1677924
- Concept ID: C5194606
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Narrow greater sciatic notch
Narrow greater sciatic notch
- MedGen UID: 154353
- Concept ID: C0566888
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Platyspondyly
Platyspondyly
- MedGen UID: 335010
- Concept ID: C1844704
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive microcephaly
Progressive microcephaly
- MedGen UID: 340542
- Concept ID: C1850456
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Thoracolumbar kyphosis
Thoracolumbar kyphosis
- MedGen UID: 383679
- Concept ID: C1855418
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Axial hypotonia
- 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
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Intellectual disability
- Growth abnormality
- Disproportionate short stature
Disproportionate short stature
- MedGen UID: 168053
- Concept ID: C0878659
- Finding: Finding
Growth abnormality
- Disproportionate short stature
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.