1q42qter deletion (Q102976): Difference between revisions
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Revision as of 08:46, 17 August 2026
1qter deletion syndrome is a chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2124150657 |
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| English | 1q42qter deletion |
1qter deletion syndrome is a chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies. |
