Disease #00008

Official abbreviation LAAHD
Name arthrogryposis, lethal, with anterior horn cell disease (LAAHD)
OMIM ID 611890
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 38
Associated with 1 gene GLE1
Associated tissues -
Disease features -
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Individuals

1 entry on 1 page. Showing entry 1.
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00001503 - - - M - - - - - - - CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORP, USH-3B ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
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