SCHAAF-YANG SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: PWLS
Number of Symptoms 32
OrphanetNr:
OMIM Id: 615547
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000135) Hypogonadism 89 / 7739
3
(HPO:0000054) Micropenis 257 / 7739
4
(HPO:0000194) Open mouth 70 / 7739
5
(HPO:0000280) Coarse facial features 189 / 7739
6
(HPO:0000341) Narrow forehead 96 / 7739
7
(HPO:0000565) Esotropia 58 / 7739
8
(HPO:0000545) Myopia 286 / 7739
9
(HPO:0001327) Photomyoclonic seizures 125 / 7739
10
(HPO:0001249) Intellectual disability 1089 / 7739
11
(HPO:0002591) Polyphagia 25 / 7739
12
(HPO:0010535) Sleep apnea 24 / 7739
13
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
14
(HPO:0001263) Global developmental delay 853 / 7739
15
(HPO:0001371) Flexion contracture 220 / 7739
16
(HPO:0200055) Small hand 71 / 7739
17
(HPO:0004283) Narrow palm 8 / 7739
18
(HPO:0002019) Constipation 194 / 7739
19
(HPO:0011968) Feeding difficulties 240 / 7739
20
(HPO:0004322) Short stature 1232 / 7739
21
(HPO:0001531) Failure to thrive in infancy 26 / 7739
22
(HPO:0001513) Obesity 172 / 7739
23
(HPO:0001319) Neonatal hypotonia 101 / 7739
24
(OMIM) Almond-shaped eyes 12 / 7739
25
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
(OMIM) Speech articulation defects 1 / 7739
27
(OMIM) Excessive weight gain after neonatal period 1 / 7739
28
(OMIM) [DEL]Autistic features 43 / 7739
29
(OMIM) Hyperphagia later 1 / 7739
30
(OMIM) [DEL]Poor feeding in infancy 6 / 7739
31
(OMIM) Contractures of the interphalangeal joints 1 / 7739
32
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schaaf et al. (2013) reported 4 unrelated boys with Prader-Willi-like syndrome. Clinical features that met the major criteria for PWS included neonatal hypotonia with poor suck, feeding problems in infancy, hyperphagia with excessive weight gain before age 6 ...
Molecular genetics OMIM In 4 unrelated boys with Prader-Willi-like syndrome, Schaaf et al. (2013) identified 4 different de novo heterozygous truncating mutations in the MAGEL2 gene (605283.0001-605283.0004). All mutations occurred on the paternal allele. Because the maternal allele is not normally ...