Table 1

Clinical overview of patients with MAGEL2-related disorders

Total
DiagnosticSYSAMC
Individuals12213
Gender43 F; 42 M; 38 UnK7 F; 5 M; 1 UnK
Protein change59 different mutationsp.Gln666Serfs*36; p.Leu708Trpfs*7
Phenotype (HPO term)
Pregnancy complications
 Decreased fetal movementHP:000155812/37 (32.4%)4/4
 PolyhydramniosHP:00015617/16 (43.75%)5/5
Neurology and neurodevelopment
 Neurodevelopmental delayHP:0012758100/100 (100%)
 Intellectual disabilityHP:000124992/97 (94.8%)
 Autistic behaviourHP:000072955/76 (72.4%)
 Abnormality of brain morphologyHP:001244319/32 (59.4%)1/1
 Infantile lethargy/weak cryHP:0001254/HP:000161215/24 (62.5%)
 EpilepsyHP:000125024/79 (30.4%)
Respiratory
 Respiratory difficultiesHP:000209860/74 (81.8%)1/1
 ApnoeaHP:000210411/18 (61.6%)
 Sleep apnoeaHP:001053553/75 (70.7%)
 Respiratory failure requiring mechanical ventilationHP:000488744/73 (60.3%)
 Respiratory distress requiring endotracheal intubationHP:000488716/50 (32.0%)
 Recurrent respiratory infectionsHP:00022055/6 (83.3%)
Feeding and growth
 Feeding difficultiesHP:001196892/106 (86.8%)1/1
 Poor suckHP:000203372/81 (88.9%)
 DysphagiaHP:000201535/50 (70.0%)
 Nasogastric tube feeding in infancyHP:001147041/63 (65.1%)
 Gastrostomy tube feeding in infancyHP:001147126/54 (48.5%)
 HyperphagiaHP:000259117/63 (27.0%)
 Increased body weight/obesityHP:0004324/HP:000151324/79 (30.4%)
 Gastro-oesophageal refluxHP:000202038/76 (50.0%)
 Chronic constipationHP:001245046/76 (60.5%)
Physical characteristics
 Neonatal hypotoniaHP:000131954/79 (68.4%)2/2
 Congenital contracturesHP:000280393/106 (87.7%)
 AMCHP:000280415/31 (48.4%)11/11
 Abnormality of the eyeHP:000047841/52 (78.8%)
 ScoliosisHP:000265038/66 (57.6%)
 Short statureHP:000432234/49 (69.4%)
 Small handsHP:020005530/49 (61.2%)
 Camptodactyly of fingerHP:010049027/54 (50.0%)4/4
 Tapered fingersHP:000118215/44 (34.1%)
 Small feetHP:000177314/38 (36.8%)
 Bilateral clubfootHP:00017768/27 (29.6%)4/4
 Facial dysmorphismHP:000199964/70 (91.4%)5/5
Endocrinology
 HypopituitarismHP:00400757/13 (53.8%)1/1
 Growth hormone deficiencyHP:000082416/22 (72.7%)
 HypothyroidismHP:00008218/27 (29.6%)
 HypoglycaemiaHP:000194314/22 (63.6%)
 Temperature instabilityHP:000596839/62 (62.9%)
 Diabetes insipidusHP:00008735/17 (29.4%)
 HypogonadismHP:000013540/80 (50%)2/2
 CryptorchidismHP:00000288/12 (66.7%)
Other alterations
 Congenital heart defectHP:00016277/20 (35.0%)
 BradycardiaHP:00016623/4 (75.0%)
 Sleep disturbanceHP:000236013/13 (100%)
 Death in infancy/childhoodHP:0001522/HP:000381910 cases13 cases
  • AMC, arthrogryposis multiplex congenita; F, female; HPO, Human Phenotype Ontology; M, male; SYS, Schaaf-Yang syndrome; UnK, unknown.