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2 OMIM references -
6 associated genes
14 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Bamforth syndrome

1 OMIM reference -
1 associated gene
10 signs/symptoms

Athyreosis

Bamforth syndrome

FOXE1	(UniProt - OMIM)		FOXE1	(UniProt - OMIM)
NKX2-1	(UniProt - OMIM)
NKX2-5	(UniProt - OMIM)
PAX8	(UniProt - OMIM)
SLC26A4	(UniProt - OMIM)
TSHR	(UniProt - OMIM)


COMMON GENES	FOXE1

Citations in the biomedical literature:

Athyreosis		Bamforth syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Bamforth-Lazarus syndrome - Hypothyroidism - cleft palate

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		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: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537901


COMMON SIGNS	- Ectopic / agenesis / dysgenesis / hypoplastic thyroid - Hypothyroidy - Intellectual deficit / mental / psychomotor retardation / learning disability

Athyreosis		Bamforth syndrome
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Face / facial anomalies - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic - Muscle weakness / flaccidity - Sleep and vigilance disorders Frequent - Short stature / dwarfism / nanism		Very frequent - Autosomal recessive inheritance - Choanal atresia - Cleft lip and palate - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Micrognathia / retrognathia / micrognathism / retrognathism - Pili torti - Polyhydramnios