Total | |||
Diagnostic | SYS | AMC | |
Individuals | 122 | 13 | |
Gender | 43 F; 42 M; 38 UnK | 7 F; 5 M; 1 UnK | |
Protein change | 59 different mutations | p.Gln666Serfs*36; p.Leu708Trpfs*7 | |
Phenotype (HPO term) | |||
Pregnancy complications | |||
Decreased fetal movement | HP:0001558 | 12/37 (32.4%) | 4/4 |
Polyhydramnios | HP:0001561 | 7/16 (43.75%) | 5/5 |
Neurology and neurodevelopment | |||
Neurodevelopmental delay | HP:0012758 | 100/100 (100%) | |
Intellectual disability | HP:0001249 | 92/97 (94.8%) | |
Autistic behaviour | HP:0000729 | 55/76 (72.4%) | |
Abnormality of brain morphology | HP:0012443 | 19/32 (59.4%) | 1/1 |
Infantile lethargy/weak cry | HP:0001254/HP:0001612 | 15/24 (62.5%) | |
Epilepsy | HP:0001250 | 24/79 (30.4%) | |
Respiratory | |||
Respiratory difficulties | HP:0002098 | 60/74 (81.8%) | 1/1 |
Apnoea | HP:0002104 | 11/18 (61.6%) | |
Sleep apnoea | HP:0010535 | 53/75 (70.7%) | |
Respiratory failure requiring mechanical ventilation | HP:0004887 | 44/73 (60.3%) | |
Respiratory distress requiring endotracheal intubation | HP:0004887 | 16/50 (32.0%) | |
Recurrent respiratory infections | HP:0002205 | 5/6 (83.3%) | |
Feeding and growth | |||
Feeding difficulties | HP:0011968 | 92/106 (86.8%) | 1/1 |
Poor suck | HP:0002033 | 72/81 (88.9%) | |
Dysphagia | HP:0002015 | 35/50 (70.0%) | |
Nasogastric tube feeding in infancy | HP:0011470 | 41/63 (65.1%) | |
Gastrostomy tube feeding in infancy | HP:0011471 | 26/54 (48.5%) | |
Hyperphagia | HP:0002591 | 17/63 (27.0%) | |
Increased body weight/obesity | HP:0004324/HP:0001513 | 24/79 (30.4%) | |
Gastro-oesophageal reflux | HP:0002020 | 38/76 (50.0%) | |
Chronic constipation | HP:0012450 | 46/76 (60.5%) | |
Physical characteristics | |||
Neonatal hypotonia | HP:0001319 | 54/79 (68.4%) | 2/2 |
Congenital contractures | HP:0002803 | 93/106 (87.7%) | |
AMC | HP:0002804 | 15/31 (48.4%) | 11/11 |
Abnormality of the eye | HP:0000478 | 41/52 (78.8%) | |
Scoliosis | HP:0002650 | 38/66 (57.6%) | |
Short stature | HP:0004322 | 34/49 (69.4%) | |
Small hands | HP:0200055 | 30/49 (61.2%) | |
Camptodactyly of finger | HP:0100490 | 27/54 (50.0%) | 4/4 |
Tapered fingers | HP:0001182 | 15/44 (34.1%) | |
Small feet | HP:0001773 | 14/38 (36.8%) | |
Bilateral clubfoot | HP:0001776 | 8/27 (29.6%) | 4/4 |
Facial dysmorphism | HP:0001999 | 64/70 (91.4%) | 5/5 |
Endocrinology | |||
Hypopituitarism | HP:0040075 | 7/13 (53.8%) | 1/1 |
Growth hormone deficiency | HP:0000824 | 16/22 (72.7%) | |
Hypothyroidism | HP:0000821 | 8/27 (29.6%) | |
Hypoglycaemia | HP:0001943 | 14/22 (63.6%) | |
Temperature instability | HP:0005968 | 39/62 (62.9%) | |
Diabetes insipidus | HP:0000873 | 5/17 (29.4%) | |
Hypogonadism | HP:0000135 | 40/80 (50%) | 2/2 |
Cryptorchidism | HP:0000028 | 8/12 (66.7%) | |
Other alterations | |||
Congenital heart defect | HP:0001627 | 7/20 (35.0%) | |
Bradycardia | HP:0001662 | 3/4 (75.0%) | |
Sleep disturbance | HP:0002360 | 13/13 (100%) | |
Death in infancy/childhood | HP:0001522/HP:0003819 | 10 cases | 13 cases |
AMC, arthrogryposis multiplex congenita; F, female; HPO, Human Phenotype Ontology; M, male; SYS, Schaaf-Yang syndrome; UnK, unknown.