14q11.2 deletion (Q104790): Difference between revisions
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A síndrome de microdeleção 14q11.2 é uma síndrome de anomalia cromossômica caracterizada por atraso no desenvolvimento, hipotonia e dismorfismo facial (olhos muito espaçados, nariz curto com ponte nasal plana, filtro longo, "arco de Cupido" proeminente, lábio inferior cheio e anomalias auriculares). | |||
| description / en | description / en | ||
14q11.2 microdeletion syndrome is a chromosomal anomaly syndrome characterised by developmental delay, hypotonia and facial dysmorphism (widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow, full lower lip and auricular anomalies). | |||
Revision as of 10:39, 17 August 2026
14q11.2 microdeletion syndrome is a chromosomal anomaly syndrome characterised by developmental delay, hypotonia and facial dysmorphism (widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow, full lower lip and auricular anomalies).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1854856553 |
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| English | 14q11.2 deletion |
14q11.2 microdeletion syndrome is a chromosomal anomaly syndrome characterised by developmental delay, hypotonia and facial dysmorphism (widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow, full lower lip and auricular anomalies). |
