Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (41.7%) |
29533933 |
Sanjad-Sakati Syndrome: Oral Health Care. Hassona Y, Rajab L, Taimeh D, Scully C. Med Princ Pract. 2018;27(3):293-296. |
Microcephaly Hypodontia | ||
Child Females Growth Disorders Homo sapiens Hypoparathyroidism Intellectual Disability Osteochondrodysplasias Seizures | ||
1 (41.7%) |
15005702 |
The dentofacial features of Sanjad-Sakati syndrome: a case report. Al-Malik MI. Int J Paediatr Dent. 2004;14(2):136-40. |
Microcephaly Microdontia | ||
Child, Preschool Craniofacial Abnormalities Dwarfism Facies Females Homo sapiens Hypoparathyroidism Intellectual Disability Micrognathism Saudi Arabia Syndrome Tooth Abnormalities | ||
3 (40.2%) |
17257873 |
Ophthalmic features of hypoparathyroidism-retardation-dysmorphism. Khan AO, Al-Assiri A, Al-Mesfer S. J AAPOS. 2007;11(3):288-90. |
Macrocephaly Prominent forehead | ||
TBCE | ||
c|DEL|155_166| | ||
Child, Preschool Corneal Opacity Craniofacial Abnormalities Females Fetal Growth Retardation Homo sapiens Hyperparathyroidism Infant Intellectual Disability Keratitis Male Microphthalmos Molecular Chaperones Saudi Arabia Syndrome | ||
4 (39.0%) |
30055029 |
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review. Ryabets-Lienhard A, Issaranggoon Na Ayuthaya S, Graham JM, Pitukcheewanont P. Am J Med Genet A. 2018;176(8):1768-1772. |
Microcephaly | ||
KNL1 TBCE | ||
Child, Preschool Face Females Growth Disorders Homo sapiens Hypoparathyroidism India Intellectual Disability Microcephaly Molecular Chaperones Mutation Osteochondrodysplasias Phenotype Seizures Whole Exome Sequencing | ||
4 (39.0%) |
26336027 (6074128) |
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. Ratbi I, Lyahyai J, Kabiri M, Banouar M, Zerkaoui M, Barkat A, Sefiania A. Ann Saudi Med. 2015;35(2):170-2. |
Microcephaly | ||
TBCE | ||
c|DEL|155_166| rs767004810 rs786205075 | ||
Females Growth Disorders Homo sapiens Hypoparathyroidism Infant, Newborn Intellectual Disability Molecular Chaperones Morocco Mutation Osteochondrodysplasias Seizures | ||
6 (26.3%) |
16470743 |
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nothen MM, Parvari R. Am J Med Genet A. 2006;140(6):611-7. |
Deeply set eye Prominent forehead | ||
TBCE | ||
Child, Preschool Chromosome Aberrations Face Females Fluorescent in Situ Hybridization Gene Duplication Genome, Human Homo sapiens Hypoparathyroidism Intellectual Disability Microtubule-Associated Proteins Molecular Chaperones Mutation Syndrome Western Blotting | ||
7 (17.5%) |
24339556 (3841568) |
Hypoparathyroidism-retardation-dysmorphism syndrome. Kumar KJ, Kumar HC, Manjunath VG, Mamatha S. Indian J Hum Genet. 2013;19(3):363-5. |
Hypoparathyroidism Tetany | ||
7 (17.5%) |
20152369 |
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. Pal K, Moammar H, Mitra DK. J Pediatr Surg. 2010;45(2):430-4. |
Myopathy | ||
Child Chromosomes, Human, Pair 1 Comorbidity Developmental Disabilities Fatal Outcome Gastrointestinal Motility Gene Deletion Growth Disorders Homo sapiens Intellectual Disability Intestinal Pseudo-Obstruction Male Saudi Arabia Syndrome | ||
9 (4.0%) |
30638765 |
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. Touati A, Nouri S, Halleb Y, Kmiha S, Mathlouthi J, Tej A, Mahdhaoui N, Ben Ahmed A, Saad A, Bensignor C, H'mida Ben Brahim D. Arch Pediatr. 2019;26(2):102-107. |
Congenital hypoparathyroidism | ||
c|DEL|155_166| | ||
Consensus Females Genetic Markers Growth Disorders Homo sapiens Hypoparathyroidism Infant Infant, Newborn Intellectual Disability Male Molecular Chaperones Osteochondrodysplasias Seizures Sequence Deletion Tunisia | ||
9 (4.0%) |
29494340 |
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. Ajarmeh SA, Al Tamimi EM. J Pediatr Endocrinol Metab. 2018;31(5):581-584. |
Hypoparathyroidism | ||
TBCE | ||
c|DEL|155_166| | ||
Anemia, Macrocytic Child, Preschool Failure to Thrive Growth Disorders Homo sapiens Hypoparathyroidism Intellectual Disability Male Osteochondrodysplasias Seizures |
Total: 36
HPO ID | Term | Frequency |
---|---|---|
HP:0000233 | Thin vermilion border | Very frequent (99-80%) |
HP:0000252 | Microcephaly | Very frequent (99-80%) |
HP:0000343 | Long philtrum | Very frequent (99-80%) |
HP:0000347 | Micrognathia | Very frequent (99-80%) |
HP:0000348 | High forehead | Very frequent (99-80%) |
HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
HP:0000444 | Convex nasal ridge | Very frequent (99-80%) |
HP:0000490 | Deeply set eye | Very frequent (99-80%) |
HP:0000829 | Hypoparathyroidism | Very frequent (99-80%) |
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0001250 | Seizures | Very frequent (99-80%) |
HP:0001773 | Short foot | Very frequent (99-80%) |
HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
HP:0002901 | Hypocalcemia | Very frequent (99-80%) |
HP:0002905 | Hyperphosphatemia | Very frequent (99-80%) |
HP:0004322 | Short stature | Very frequent (99-80%) |
HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
HP:0008198 | Congenital hypoparathyroidism | Very frequent (99-80%) |
HP:0008572 | External ear malformation | Very frequent (99-80%) |
HP:0008846 | Severe intrauterine growth retardation | Very frequent (99-80%) |
HP:0008897 | Postnatal growth retardation | Very frequent (99-80%) |
HP:0200055 | Small hand | Very frequent (99-80%) |
HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
HP:0000682 | Abnormality of dental enamel | Frequent (79-30%) |
HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
HP:0000028 | Cryptorchidism | Occasional (29-5%) |
HP:0000483 | Astigmatism | Occasional (29-5%) |
HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
HP:0003198 | Myopathy | Occasional (29-5%) |
HP:0003416 | Spinal canal stenosis | Occasional (29-5%) |
HP:0005214 | Intestinal obstruction | Occasional (29-5%) |
HP:0005374 | Cellular immunodeficiency | Occasional (29-5%) |
HP:0005686 | Patchy osteosclerosis | Occasional (29-5%) |
HP:0007957 | Corneal opacity | Occasional (29-5%) |
HP:0008056 | Aplasia/Hypoplasia affecting the eye | Occasional (29-5%) |
HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
Total: 14
HPO ID | Term | # of case reports |
---|---|---|
HP:0000829 | Hypoparathyroidism | 8 |
HP:0008198 | Congenital hypoparathyroidism | 5 |
HP:0001250 | Seizures | 4 |
HP:0000490 | Deeply set eye | 2 |
HP:0011220 | Prominent forehead | 2 |
HP:0001281 | Tetany | 1 |
HP:0001508 | Failure to thrive | 1 |
HP:0001511 | Intrauterine growth retardation | 1 |
HP:0002133 | Status epilepticus | 1 |
HP:0002901 | Hypocalcemia | 1 |
HP:0002905 | Hyperphosphatemia | 1 |
HP:0003510 | Severe short stature | 1 |
HP:0004322 | Short stature | 1 |
HP:0100806 | Sepsis | 1 |