KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA

General Information (adopted from Orphanet):

Synonyms, Signs: SPASTIC PARAPLEGIA-KALLMANN SYNDROME
Number of Symptoms 18
OrphanetNr:
OMIM Id: 308750
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
 (HPO:0000054) Micropenis 257 / 7739
3
 (HPO:0000122) Unilateral renal agenesis 24 / 7739
4
 (HPO:0000029) Testicular atrophy 13 / 7739
5
 (HPO:0000028) Cryptorchidism 347 / 7739
6
 (HPO:0000458) Anosmia 49 / 7739
7
 (HPO:0000218) High palate 356 / 7739
8
 (HPO:0001335) Bimanual synkinesia 9 / 7739
9
 (HPO:0001251) Ataxia 413 / 7739
10
 (HPO:0001258) Spastic paraplegia 97 / 7739
11
 (HPO:0000771) Gynecomastia 53 / 7739
12
 (HPO:0003295) Impaired FSH and LH secretion 2 / 7739
13
 (HPO:0002929) Leydig cell insensitivity to gonadotropin 2 / 7739
14
 (HPO:0003164) Hypothalamic gonadotropin-releasing hormone deficiency 2 / 7739
15
 (HPO:0001761) Pes cavus 225 / 7739
16
 (HPO:0003782) Eunuchoid habitus 8 / 7739
17
 (HPO:0002225) Sparse pubic hair 76 / 7739
18
 (HPO:0001341) Olfactory lobe agenesis 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: