Belgian Genetic Tests database
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
| Name: |
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
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| Description: |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay / intellectual disability are variably reported.
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| ORPHAcode: |
589856
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| Synonyms: |
KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
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| XREF(s): | |
| Analyte(s): | |
| Created: |
20 Aug 2021 - 01:14
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| Changed: |
22 Jun 2023 - 16:14
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