IllnessSanjad-Sakati syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Sanjad-Sakati syndrome

SS5070

Number of genes

1 Accredited laboratory test

Examined sequence length

1,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
TBCE	1584	604934	NM_003193.5	AR

Informations about the disease

Clinical Comment

Hypoparathyroidism-intellectual disability-dysmorphism, multiple congenital anomaly syndrome (mainly Middle East + the Arabian Gulf), intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (can cause hypocalcemic tetany/seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy large ears, long philtrum, thin lips, micrognathia), mild to moderate intellectual deficiency. Ocular findings (nanophthalmos, retinal vascular tortuosity, corneal opacification/clouding), superior mesenteric artery syndrome. Allelic AR Kenny-Caffey syndrome, normal intelligence + skeletal features

Synonyms

Alias: Hypoparathyreodism-retardation-dysmorphism syndromem(TBCE)
Alias: Hypoparathyroidism-intellectual disability-dysmorphism syndrome (TBCE)
Alias: Hypoparathyroidism-short stature-intellectual disability-seizures syndrome (TBCE)
Allelic: Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
Allelic: Kenny-Caffey syndrome, type 1 (TBCE)

Heredity, heredity patterns etc.

OMIM-Ps

604934

ICD10 Code

Bioinformatics and clinical interpretation

No text defined