1q42qter deletion (Q102976): Difference between revisions
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| description / pt-br | description / pt-br | ||
Síndrome de deleção 1qter é uma anomalia cromossômica caracterizada por uma deficiência intelectual, microcefalia progressiva, convulsões, atraso de crescimento, características dismórficas faciais distintas e vários defeitos da linha média, incluindo anomalias cardíacas, gastroesofágicas e urogenitais e do corpo caloso. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| 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. |
