Name Gaucher Disease, Perinatal Lethal
Synonyms GAUCHER DISEASE, COLLODION TYPE
Classification genetic, metabolism, skin, sucking/swallowing
Phenotypes Akinesia; Anemia; Anteverted nares; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Autosomal recessive inheritance; Cardiomegaly; Congenital nonbullous ichthyosiform erythroderma; Decreased beta-glucocerebrosidase activity; Decreased body weight; Decreased fetal movement; Depressed nasal bridge; Desquamation of skin soon after birth; Dysphagia; Everted lower lip vermilion; Everted upper lip vermilion; Hepatic failure; Hepatomegaly; Hepatosplenomegaly; Hyperkeratosis; Hypertelorism; Hypokinesia; Ichthyosis; Intrauterine growth retardation; Low-set ears; Microcephaly; Micrognathia; Microtia; Narrow mouth; Nonimmune hydrops fetalis; Open mouth; Opisthotonus; Petechiae; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Respiratory distress; Retrognathia; Seizures; Short nose; Splenomegaly; Strabismus; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Ventriculomegaly
Associated Genes GBA (Withdrawn symbols: GBA1, GLUC )
Mouse Orthologs Gba
Source
OMIM:608013 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)