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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
12 OMIM references -
13 associated genes
55 signs/symptoms
Hypomyelination with atrophy of basal ganglia and cerebellum
Zellweger syndrome

TUBB4A PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB4A
(0.56)
PEX14



Citations in the biomedical literature:


Hypomyelination with atrophy of basal ganglia and cerebellum
TUBB4A
Zellweger syndrome
PEX1 PEX10 PEX11B PEX12 PEX13 PEX14
PEX16 PEX19 PEX2 PEX26 PEX3 PEX5
PEX6



Hypomyelination with atrophy of basal ganglia and cerebellum
Zellweger syndrome

Synonym(s):
- H-ABC

Synonym(s):
- Cerebrohepatorenal syndrome
- ZS

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
- Rare renal disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
12 OMIM references -
1 MeSH reference: D015211

Zellweger syndrome

Very frequent
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Corneal clouding / opacity / vascularisation
- Death in infancy
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- EEG anomalies
- Epicanthic folds
- External ear anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Flat face
- Hepatitis / icterus / cholestasis
- Hepatocellular liver disease / hepatic failure
- Hepatomegaly / liver enlargement (excluding storage disease)
- High forehead
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Organic acid metabolism anomalies
- Punctate epiphyses / epiphysis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Short stature / dwarfism / nanism
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Brachycephaly / flat occiput
- Cataract / lens opacification
- Embryotoxon
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Flat supraorbital ridge
- Gastric / pyloric stenosis
- High vaulted / narrow palate
- Hypospadias / epispadias / bent penis
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Multicystic kidney / renal dysplasia
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Prematurity
- Retinal / chorioretinal dysplasia / dystrophy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Occasional
- Brushfield spots
- Clotting / hemostasis disorders
- Cortico-adrenal hypoplasia / insufficiency
- Excess nuchal skin without pterygium colli
- Glaucoma
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Ventricular septal defect / interventricular communication


Hypomyelination with atrophy of basal ganglia and cerebellum

(no data available)