Synonym(s): - Bamforth-Lazarus syndrome - Hypothyroidism - cleft palate
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C537901
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
FOXE1	O00358	602617

- Autosomal recessive inheritance
- Choanal atresia
- Cleft lip and palate
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Hypothyroidy
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micrognathia / retrognathia / micrognathism / retrognathism
- Pili torti
- Polyhydramnios