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| Skeletal dysplasia v0.0 | ISCA-37434-Loss |
Zornitza Stark Region: ISCA-37434-Loss was added Region: ISCA-37434-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37434-Loss were set to 18245432; 17918734; 22766398 Phenotypes for Region: ISCA-37434-Loss were set to microcephaly; 1p36 deletion syndrome; large anterior fontanels; large, late-closing anterior fontanel; deep-set eyes; central nervous system anomalies; pointed chin; heart defects; poor/absent speech; hypotonia; brachycephaly; hearing impairment; 607872; growth impairment; flat nose; nasal bridge; mental retardation; seizures; epicanthus; microbrachycephaly; posteriorly rotated, low-set, abnormal ears; developmental delay; distinct dysmorphic features |
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