FG SYNDROME 4

General Information (adopted from Orphanet):

Synonyms, Signs: FGS4 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS, INCLUDED
Number of Symptoms 11
OrphanetNr:
OMIM Id: 300422
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:0000316) Hypertelorism 19200522 IBIS 644 / 7739
2
(HPO:0011220) Prominent forehead 3/8 [HPO:probinson] 19200522 IBIS 137 / 7739
3
(HPO:0000431) Wide nasal bridge 19200522 IBIS 290 / 7739
4
(HPO:0000407) Sensorineural hearing impairment 4/6 [HPO:probinson] 19200522 IBIS 524 / 7739
5
(HPO:0001250) Seizures 5/8 [HPO:probinson] 19200522 IBIS 1245 / 7739
6
(HPO:0001263) Global developmental delay 19200522 IBIS 853 / 7739
7
(HPO:0001249) Intellectual disability 19200522 IBIS 1089 / 7739
8
(HPO:0002650) Scoliosis 2/8 [HPO:probinson] 19200522 IBIS 705 / 7739
9
(HPO:0008872) Feeding difficulties in infancy 5/8 [HPO:probinson] 19200522 IBIS 153 / 7739
10
(HPO:0001319) Neonatal hypotonia 6/8 [HPO:probinson] 19200522 IBIS 101 / 7739
11
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).

The name 'FG' derives from the first description of the disorder ...

Clinical Description OMIM Piluso et al. (2003) identified and clinically characterized an Italian family with FG syndrome, including 31 members with 3 affected males in 2 generations and 2 obligate carriers. At the age of 2 years, the propositus showed marked ...
Molecular genetics OMIM - FG Syndrome 4

In affected members of the Italian family with FG syndrome originally reported by Piluso et al. (2003), Piluso et al. (2009) identified a missense mutation in the CASK gene (300172.0003), resulting in ...