German syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 35
OrphanetNr: 2077
OMIM Id: 231080
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
2
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
3
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
4
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
5
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
6
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
7
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
8
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
9
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
10
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
11
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
12
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
13
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
14
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
15
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
16
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
17
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
18
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
19
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
20
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
21
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
22
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
23
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
24
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
25
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
26
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
27
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
28
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
29
 (HPO:0001648) Cor pulmonale 16 / 7739
30
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
31
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
32
 (HPO:0001319) Neonatal hypotonia 101 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
 (OMIM) Hypotonia-hypokinesia sequence 1 / 7739
35
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: