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]. |
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