source_gene_symbol: BRAF

nucleotide_change: Not reported

protein_change: Not reported

variant_label: Not reported

label: genetically associated with

diagnosis_methods:
Doctor suspected in utero
Gene sequencing
Imaging

sex: Male

age_group: 1 - 5 years

ethnicity: Unknown

country_treated: United States


diagnosis_methods: Dysmorphic features postnatally including: high forehead, broad nasal bridge, down-slanting palpebral fissures, low-set ears, mild hypotonia and bilateral single transverse palmar crease

sex: Female

age_group: 4 - 6 months

country_treated: Denmark


age_group: < 1 month

country_treated: Italy


diagnosis_methods:
Gene sequencing
Imaging

age_group: 6 - 10 years

country_treated: Canada


source_gene_symbol: HRAS

diagnosis_methods:
Doctor suspected in utero
Gene sequencing

age_group: 7 - 11 months

ethnicity: Hispanic/Latino


name: Noonan syndrome with multiple lentigines

ethnicity: Not Hispanic/Latino


age_group: 21 - 30 years

country_treated: France


country_treated: Japan


source_gene_symbol: Syngap

name: SYNGAP1-related developmental and epileptic encephalopathy

race:
Black or African American
White