Peroxisome biogenesis disorder 2A (Zellweger)
- Synonyms
- Cerebrohepatorenal syndrome; Cerebrohepatorenal syndrome, variant types
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (65 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Abnormality of the mitochondrion
Abnormality of the mitochondrion
- MedGen UID: 892403
- Concept ID: C4023042
- Finding: Anatomical Abnormality
Abnormal cellular phenotype
- Abnormality of the mitochondrion
- Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- High forehead
High forehead
- MedGen UID: 65991
- Concept ID: C0239676
- Finding: Finding
Abnormality of head or neck
- Palpebral edema
Palpebral edema
- MedGen UID: 57877
- Concept ID: C0162285
- Finding: Pathologic Function
Abnormality of head or neck
- Upslanted palpebral fissure
Upslanted palpebral fissure
- MedGen UID: 98390
- Concept ID: C0423109
- Finding: Finding
Abnormality of head or neck
- Cleft palate
- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Cubitus valgus
Cubitus valgus
- MedGen UID: 490152
- Concept ID: C0158465
- Finding: Acquired Abnormality
Abnormality of limbs
- Metatarsus adductus
Metatarsus adductus
- MedGen UID: 898667
- Concept ID: C4082169
- Finding: Anatomical Abnormality
Abnormality of limbs
- Single transverse palmar crease
Single transverse palmar crease
- MedGen UID: 96108
- Concept ID: C0424731
- Finding: Finding
Abnormality of limbs
- Clubfoot
- Abnormality of metabolism/homeostasis
- Elevated circulating long chain fatty acid concentration
Elevated circulating long chain fatty acid concentration
- MedGen UID: 395207
- Concept ID: C1859241
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating long chain fatty acid concentration
- Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
Abnormal cardiovascular system morphology
- MedGen UID: 892473
- Concept ID: C4049796
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Abnormal heart morphology
Abnormal heart morphology
- MedGen UID: 6748
- Concept ID: C0018798
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
- Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Intrahepatic biliary dysgenesis
Intrahepatic biliary dysgenesis
- MedGen UID: 347107
- Concept ID: C1859235
- Finding: Finding
Abnormality of the digestive system
- Jaundice
Jaundice
- MedGen UID: 43987
- Concept ID: C0022346
- Finding: Sign or Symptom
Abnormality of the digestive system
- Poor suck
Poor suck
- MedGen UID: 324693
- Concept ID: C1837142
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
- Abnormality of the eye
- Brushfield spots
Brushfield spots
- MedGen UID: 266270
- Concept ID: C1303007
- Finding: Finding
Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Opacification of the corneal stroma
Opacification of the corneal stroma
- MedGen UID: 602191
- Concept ID: C0423250
- Finding: Finding
Abnormality of the eye
- Optic nerve dysplasia
Optic nerve dysplasia
- MedGen UID: 390938
- Concept ID: C2676026
- Finding: Finding
Abnormality of the eye
- Pigmentary retinopathy
Pigmentary retinopathy
- MedGen UID: 1643295
- Concept ID: C4551715
- Finding: Disease or Syndrome
Abnormality of the eye
- Brushfield spots
- Abnormality of the genitourinary system
- Aminoaciduria
Aminoaciduria
- MedGen UID: 116067
- Concept ID: C0238621
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Clitoral hypertrophy
Clitoral hypertrophy
- MedGen UID: 57848
- Concept ID: C0156394
- Finding: Finding
Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Polycystic kidney disease
Polycystic kidney disease
- MedGen UID: 9639
- Concept ID: C0022680
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Aminoaciduria
- Abnormality of the immune system
- Hypoplasia of the thymus
Hypoplasia of the thymus
- MedGen UID: 146347
- Concept ID: C0685891
- Finding: Congenital Abnormality
Abnormality of the immune system
- Hypoplasia of the thymus
- Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint contracture of the hand
Joint contracture of the hand
- MedGen UID: 56382
- Concept ID: C0158113
- Finding: Finding
Abnormality of the musculoskeletal system
- Large fontanelles
Large fontanelles
- MedGen UID: 105329
- Concept ID: C0456132
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Stippled chondral calcification
Stippled chondral calcification
- MedGen UID: 871201
- Concept ID: C4025679
- Finding: Finding
Abnormality of the musculoskeletal system
- Turricephaly
Turricephaly
- MedGen UID: 1726910
- Concept ID: C5399823
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Camptodactyly
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- 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
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Areflexia
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Apnea
- Ear malformation
- Abnormal helix morphology
Abnormal helix morphology
- MedGen UID: 344782
- Concept ID: C1856660
- Finding: Anatomical Abnormality
Ear malformation
- Abnormal helix morphology
- 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
- Failure to thrive
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