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1 OMIM reference -
1 associated gene
23 signs/symptoms
PROTEIN INTERACTIONS: 1
16 OMIM references -
26 associated genes
No signs/symptoms info
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Amyotrophic lateral sclerosis

IGBP1 ANG
ATXN2
C9ORF72
CHMP2B
DAO
DCTN1
DPYSL3
ERBB4
FIG4
FUS
HNRNPA1
NEFH
OPTN
PFN1
PON1
PON2
PON3
PPARGC1A
PRPH
SOD1
SQSTM1
TAF15
TARDBP
UBQLN2
VAPB
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IGBP1
(0.49)
UBQLN2



Citations in the biomedical literature:


Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
IGBP1
Amyotrophic lateral sclerosis
ANG ATXN2 C9ORF72 CHMP2B DAO DCTN1
DPYSL3 ERBB4 FIG4 FUS HNRNPA1 NEFH
OPTN PFN1 PON1 PON2 PON3 PPARGC1A
PRPH SOD1 SQSTM1 TAF15 TARDBP UBQLN2
VAPB VCP



Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Amyotrophic lateral sclerosis

Synonym(s):
- Graham-Cox syndrome

Synonym(s):
- ALS
- Charcot disease
- Lou Gehrig disease

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
16 OMIM references -
1 MeSH reference: D000690

Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia

Very frequent
- Anomalies of ear and hearing
- Conductive deafness / hearing loss
- Corpus callosum / septum pellucidum total / partial agenesis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Pectus excavatum
- Scoliosis
- Sensorineural deafness / hearing loss
- Short neck
- Short stature / dwarfism / nanism
- X-linked recessive inheritance

Frequent
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of iris
- High nasal bridge
- High vaulted / narrow palate
- Patent ductus arteriosus
- Ventricular septal defect / interventricular communication



Amyotrophic lateral sclerosis

(no data available)