1q41q42 deletion (Q63726): Difference between revisions
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| description / pt-br | description / pt-br | ||
Síndrome de microdeleção 1q41q42 é uma anomalia cromossômica caracterizada por um grave atraso do desenvolvimento e/ou incapacidade intelectual, características dismórficas faciais típicas, anomalias cerebrais, convulsões, fissura palatina, pés tortos, hipoplasia de unhas e doença cardíaca congênita. | |||
| description / en | description / en | ||
1q41q42 microdeletion syndrome is a chromosomal anomaly characterised by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. | |||
Revision as of 11:13, 14 August 2026
1q41q42 microdeletion syndrome is a chromosomal anomaly characterised by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_740947783 |
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| English | 1q41q42 deletion |
1q41q42 microdeletion syndrome is a chromosomal anomaly characterised by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. |
