Disease #00877

Official abbreviation 3M-2
Name 3-M syndrome, type 2 (3M-2)
OMIM ID 612921
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene OBSL1
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Disease features -
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Individuals

1 entry on 1 page. Showing entry 1.
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00144443 - PubMed: Kariminejad 2017 - M yes Iran - - 0 - - 3M-2 HP:0007503 (Generalized Ichthyosis); HP:0001264 (spastic diplegia); HP:0001249 (intellectual disability); HP:0000613 (photophobia); HP:0001622 (premature birth, 32 weeks); HP:0001347 (Hyperreflexia) ALDH3A2 ALDH3A2 1 1 Maximilian Weustenfeld
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