Hatipoglu immunodeficiency syndrome
- Synonyms
- IMMUNODEFICIENCY 111
Summary
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Pancytopenia
Pancytopenia
- MedGen UID: 18281
- Concept ID: C0030312
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Broad forehead
Broad forehead
- MedGen UID: 338610
- Concept ID: C1849089
- 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
- Broad forehead
- Abnormality of metabolism/homeostasis
- Recurrent fever
Recurrent fever
- MedGen UID: 811468
- Concept ID: C3714772
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Recurrent fever
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the immune system
- Allergy
Allergy
- MedGen UID: 9370
- Concept ID: C0020517
- Finding: Pathologic Function
Abnormality of the immune system
- Asthma
Asthma
- MedGen UID: 2109
- Concept ID: C0004096
- Finding: Disease or Syndrome
Abnormality of the immune system
- Atopic eczema
Atopic eczema
- MedGen UID: 41502
- Concept ID: C0011615
- Finding: Disease or Syndrome
Abnormality of the immune system
- Eczematoid dermatitis
Eczematoid dermatitis
- MedGen UID: 3968
- Concept ID: C0013595
- Finding: Disease or Syndrome
Abnormality of the immune system
- Immunodeficiency
Immunodeficiency
- MedGen UID: 7034
- Concept ID: C0021051
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent herpes
Recurrent herpes
- MedGen UID: 870750
- Concept ID: C4025207
- Finding: Finding
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Recurrent otitis media
Recurrent otitis media
- MedGen UID: 155436
- Concept ID: C0747085
- Finding: Disease or Syndrome
Abnormality of the immune system
- Allergy
- Abnormality of the integument
- Anhidrosis
Anhidrosis
- MedGen UID: 1550
- Concept ID: C0003028
- Finding: Disease or Syndrome
Abnormality of the integument
- Dry skin
Dry skin
- MedGen UID: 56250
- Concept ID: C0151908
- Finding: Sign or Symptom
Abnormality of the integument
- Fair hair
Fair hair
- MedGen UID: 336542
- Concept ID: C1849221
- Finding: Finding
Abnormality of the integument
- Hyperpigmented/hypopigmented macules
Hyperpigmented/hypopigmented macules
- MedGen UID: 870431
- Concept ID: C4024877
- Finding: Finding
Abnormality of the integument
- Petechiae
Petechiae
- MedGen UID: 10680
- Concept ID: C0031256
- Finding: Disease or Syndrome
Abnormality of the integument
- Poor wound healing
Poor wound healing
- MedGen UID: 377525
- Concept ID: C1851789
- Finding: Finding
Abnormality of the integument
- Premature graying of hair
Premature graying of hair
- MedGen UID: 75524
- Concept ID: C0263498
- Finding: Finding
Abnormality of the integument
- Thickened skin
Thickened skin
- MedGen UID: 66024
- Concept ID: C0241165
- Finding: Finding
Abnormality of the integument
- Anhidrosis
- Abnormality of the musculoskeletal system
- Hemivertebrae
Hemivertebrae
- MedGen UID: 82720
- Concept ID: C0265677
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Hemivertebrae
- 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
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Febrile seizure (within the age range of 3 months to 6 years)
Febrile seizure (within the age range of 3 months to 6 years)
- MedGen UID: 3232
- Concept ID: C0009952
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Slurred speech
Slurred speech
- MedGen UID: 65885
- Concept ID: C0234518
- Finding: Finding
Abnormality of the nervous system
- Specific learning disability
Specific learning disability
- MedGen UID: 871302
- Concept ID: C4025790
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Autistic behavior
- Abnormality of the respiratory system
- Recurrent bronchitis
Recurrent bronchitis
- MedGen UID: 148159
- Concept ID: C0741796
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent bronchitis
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Proportionate short stature
Proportionate short stature
- MedGen UID: 163901
- Concept ID: C0878660
- Finding: Finding
Growth abnormality
- Failure to thrive
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