Blepharophimosis, short humeri, developmental delay and Hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A 2014 164A:1821-5. Lesca G, Moizard MP, Bussy G, et al. [rarediseases.org]

delays, but we now know that some individuals with FGS actually fall into realms of gifted and talented. [appliedbehavioranalysisedu.org]

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing. Genet Med. 2009 Nov;11(11):769-77. Risheg H, Graham JM, Clark RD, et al. [rarediseases.org]

speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language [rarediseases.info.nih.gov]

Aliases & Classifications for Fg Syndrome 2 Summaries for Fg Syndrome 2 OMIM : 56 Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly [malacards.org]

Related phenotypes are constipation and delayed speech and language development UniProtKB/Swiss-Prot : 73 FG syndrome 2: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. [malacards.org]

Showing of 11 Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Broad hallux Broad big toe Wide big toe [ more ] 0010055 Constipation 0002019 Decreased body weight Decreased weight Low [rarediseases.info.nih.gov]

These can include hypotonia, chronic constipation, a wide and high forehead, small ears, chronic ear infections, respiratory conditions, and sensory integration issues, among other markers. [appliedbehavioranalysisedu.org]

Aliases & Classifications for Fg Syndrome 2 Summaries for Fg Syndrome 2 OMIM : 56 Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly [malacards.org]

upsweep of hair 31 HP:0002236 10 underdeveloped superior crus of antihelix 31 HP:0011246 Symptoms via clinical synopsis from OMIM: 56 Abdomen Gastrointestinal: constipation normal placement of anus Head And Neck Ears: prominent ears hypoplasia of the [malacards.org]

upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Large forehead Increased size of forehead 0002003 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Prominent forehead Pronounced forehead Protruding forehead [ [rarediseases.info.nih.gov]

These can include: Chronic constipation Seizures Hearing impairment Speech delays Fatigue (likely due to hypotonia) Sensory Processing Disorder Tethered cord syndrome, often requiring surgery Bullying One issue that deserves special mention is challenging [appliedbehavioranalysisedu.org]

These can include hypotonia, chronic constipation, a wide and high forehead, small ears, chronic ear infections, respiratory conditions, and sensory integration issues, among other markers. [appliedbehavioranalysisedu.org]

onset 0001319 Prominent forehead Pronounced forehead Protruding forehead [ more ] 0011220 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Underdeveloped superior crus of antihelix 0011246 X-linked inheritance 0001417 Showing of 11 Last updated [rarediseases.info.nih.gov]

Related phenotypes are constipation and delayed speech and language development UniProtKB/Swiss-Prot : 73 FG syndrome 2: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. [malacards.org]

speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept [rarediseases.info.nih.gov]

delay, mild Head And Neck Face: prominent forehead rounded forehead Growth Weight: low weight Laboratory Abnormalities: normal karyotype Skin Nails Hair Hair: frontal upsweep of hair with cowlick Clinical features from OMIM: 300321 Drugs & Therapeutics [malacards.org]

Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Large forehead Increased size of forehead 0002003 Neonatal [rarediseases.info.nih.gov]

Symptoms & Phenotypes for Fg Syndrome 2 Human phenotypes related to Fg Syndrome 2: 31 (show all 10) # Description HPO Frequency HPO Source Accession 1 constipation 31 HP:0002019 2 delayed speech and language development 31 HP:0000750 3 neonatal hypotonia [malacards.org]

These can include: Chronic constipation Seizures Hearing impairment Speech delays Fatigue (likely due to hypotonia) Sensory Processing Disorder Tethered cord syndrome, often requiring surgery Bullying One issue that deserves special mention is challenging [appliedbehavioranalysisedu.org]