Pilarowski-Bjornsson syndrome
- Synonyms
- DEVELOPMENTAL DELAY AND SPEECH APRAXIA WITH OR WITHOUT SEIZURES
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (4 available)
Clinical features
Help- Abnormality of head or neck
- Almond-shaped palpebral fissure
Almond-shaped palpebral fissure
- MedGen UID: 870336
- Concept ID: C4024780
- Finding: Finding
Abnormality of head or neck
- Broad eyebrow
Broad eyebrow
- MedGen UID: 344657
- Concept ID: C1856121
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Periorbital fullness
Periorbital fullness
- MedGen UID: 1710990
- Concept ID: C4760994
- Finding: Finding
Abnormality of head or neck
- Pointed chin
Pointed chin
- MedGen UID: 336193
- Concept ID: C1844505
- Finding: Finding
Abnormality of head or neck
- Almond-shaped palpebral fissure
- Abnormality of the immune system
- Immunodeficiency
Immunodeficiency
- MedGen UID: 7034
- Concept ID: C0021051
- Finding: Disease or Syndrome
Abnormality of the immune system
- Immunodeficiency
- Abnormality of the integument
- Dermal translucency
Dermal translucency
- MedGen UID: 373141
- Concept ID: C1836646
- Finding: Finding
Abnormality of the integument
- Long eyelashes
Long eyelashes
- MedGen UID: 342955
- Concept ID: C1853738
- Finding: Finding
Abnormality of the integument
- Prominent fingertip pads
Prominent fingertip pads
- MedGen UID: 322758
- Concept ID: C1835807
- Finding: Finding
Abnormality of the integument
- Dermal translucency
- Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
- Abnormality of the nervous system
- Autism
Autism
- MedGen UID: 13966
- Concept ID: C0004352
- Finding: Mental or Behavioral Dysfunction
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
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Motor stereotypies
Motor stereotypies
- MedGen UID: 21318
- Concept ID: C0038271
- Finding: Individual Behavior
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Speech apraxia
Speech apraxia
- MedGen UID: 78112
- Concept ID: C0264611
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Autism
- Growth abnormality
- Postnatal growth retardation
Postnatal growth retardation
- MedGen UID: 395343
- Concept ID: C1859778
- Finding: Finding
Growth abnormality
- Postnatal growth retardation
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