Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines




Disease hypotonia
Phenotype C0025958|microcephaly
Sentences 3
PubMedID- 22345997 Her examination revealed microcephaly with marked hypotonia and bilateral extensor plantar response.
PubMedID- 23878469 She had mental retardation, microcephaly, neuroregression with hypotonia, joint contraction [figures 1 and 2], and squint.
PubMedID- 24204302 Homozygous mutations in the ier3ip1 gene encoding the immediate and early response 3 interacting protein 1 result in infantile diabetes and congenital microcephaly with simplified gyration, hypotonia, intractable seizures, and early death [37], [38].

Page: 1