Ichthyosis - intellectual deficit - dwarfism - renal impairment

General Information (adopted from Orphanet):

Synonyms, Signs: Passwell-Goodman-Siprkowski syndrome
Number of Symptoms 17
OrphanetNr: 2278
OMIM Id: 242530
ICD-10:
UMLs: C1855787
MeSH: C536274
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with other associated signs
 -Rare genetic disease
 -Rare skin disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000112) Nephropathy 92 / 7739
2
 (HPO:0000869) Secondary amenorrhea Occasional [Orphanet] 42 / 7739
3
 (HPO:0012213) Decreased glomerular filtration rate 21 / 7739
4
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
5
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
8
 (HPO:0003510) Severe short stature 90 / 7739
9
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
10
 (HPO:0007479) Congenital nonbullous ichthyosiform erythroderma 13 / 7739
11
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
12
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
13
 (HPO:0003259) Elevated serum creatinine 31 / 7739
14
 (HPO:0004337) Abnormality of amino acid metabolism Occasional [Orphanet] 45 / 7739
15
 (OMIM) Elevated BUN 1 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: