Ulna hypoplasia - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: MESOMELIA OF THE UPPER LIMBS, ANONYCHIA CONGENITA, CLUBFEET, AND MENTAL RETARDATION
Number of Symptoms 24
OrphanetNr: 2249
OMIM Id: 276821
ICD-10: Q87.2
UMLs: C2931370
MeSH: C536934
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
2
 (HPO:0002187) Intellectual disability, profound 44 / 7739
3
 (HPO:0010501) Limitation of knee mobility 2 / 7739
4
 (HPO:0002996) Limited elbow movement 16 / 7739
5
 (HPO:0009465) Ulnar deviation of finger Very frequent [Orphanet] 48 / 7739
6
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
7
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
8
 (HPO:0005648) Bilateral ulnar hypoplasia 1 / 7739
9
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
10
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
11
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
12
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
13
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
14
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
15
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
16
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
17
 (HPO:0001817) Absent fingernail 2 / 7739
18
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
19
 (HPO:0001802) Absent toenail 6 / 7739
20
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (OMIM) Bilateral symmetrical ulnar hypoplasia 1 / 7739
23
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
24
 (OMIM) Severe varus deformity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: