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Lissencephaly due to LIS1 mutation
1 OMIM reference -
1 associated gene
27 connected diseases
No signs/symptoms info
Disease Type of connection
Subcortical band heterotopia
17p13.3 microduplication syndrome
Miller-Dieker syndrome
Lissencephaly type 1 due to doublecortin gene mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Hydranencephaly
Microlissencephaly
Amyotrophic lateral sclerosis
Distal hereditary motor neuropathy type 7
Perry syndrome
Lissencephaly due to TUBA1A mutation
Leber congenital amaurosis
Senior-Loken syndrome
Acrodysostosis
Acrodysostosis with multiple hormone resistance
AICA-ribosiduria
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial leiomyomatosis
Fumaric aciduria
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Primary ciliary dyskinesia
Synonym(s):
- PAFAH1B1-associated lissencephaly
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PAFAH1B1 P43034601545
No signs/symptoms info available.