HELSMOORTEL-VAN DER AA SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 27
OrphanetNr:
OMIM Id: 615873
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000625) Cleft eyelid 31 / 7739
2
 (HPO:0011220) Prominent forehead 137 / 7739
3
 (HPO:0000431) Wide nasal bridge 290 / 7739
4
 (HPO:0003196) Short nose 264 / 7739
5
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
6
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
7
 (HPO:0000319) Smooth philtrum 72 / 7739
8
 (HPO:0000505) Visual impairment 297 / 7739
9
 (HPO:0000486) Strabismus 576 / 7739
10
 (HPO:0000540) Hypermetropia 99 / 7739
11
 (HPO:0000508) Ptosis 459 / 7739
12
 (HPO:0000722) Obsessive-compulsive behavior 35 / 7739
13
 (HPO:0000752) Hyperactivity 140 / 7739
14
 (HPO:0000733) Stereotypy 58 / 7739
15
 (HPO:0000729) Autistic behavior 27 / 7739
16
 (HPO:0001263) Global developmental delay 853 / 7739
17
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0002463) Language impairment 15 / 7739
20
 (HPO:0001388) Joint laxity 117 / 7739
21
 (HPO:0200055) Small hand 71 / 7739
22
 (HPO:0011968) Feeding difficulties 240 / 7739
23
 (HPO:0001513) Obesity 172 / 7739
24
 (HPO:0004322) Short stature 1232 / 7739
25
 (HPO:0002719) Recurrent infections 107 / 7739
26
 (HPO:0001252) Muscular hypotonia 990 / 7739
27
 (HPO:0030680) Abnormality of cardiovascular system morphology rare [HPO:skoehler] 355 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: