FG SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: FGS2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 300321
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:0002003) Large forehead 17632775 IBIS 9 / 7739
2
(HPO:0011246) Underdeveloped superior crus of antihelix 17632775 IBIS 1 / 7739
3
(HPO:0000750) Delayed speech and language development 17632775 IBIS 197 / 7739
4
(HPO:0002019) Constipation 17632775 IBIS 194 / 7739
5
(HPO:0001319) Neonatal hypotonia 17632775 IBIS 101 / 7739
6
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).
Clinical Description OMIM Briault et al. (1999) reported a French boy with FG syndrome. His maternal uncle was mentally retarded. The proband had mental retardation, facial anomalies, prominent forehead, hypotonia, failure to thrive, constipation, and anteriorly placed anus, while his maternal ...
Molecular genetics OMIM In a German boy with FGS2, Unger et al. (2007) identified a hemizygous mutation in the FLNA gene (P1291L; 300017.0028). His asymptomatic mother also carried the mutation, which was absent in 100 control chromosomes. Unger et al. (2007) ...