Disease: Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Name Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Synonyms CARPENTER-WAZIRI SYNDROME , CHUDLEY-LOWRY SYNDROME , HOLMES-GANG SYNDROME , JUBERG-MARSIDI SYNDROME; JMS , MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM , SFMS , SMITH-FINEMAN-MYERS SYNDROME 1; SFM1 , XLMR-HYPOTONIC FACIES SYNDROME

Classification developmental, genetic, neurological

Phenotypes Abnormality of blood and blood-forming tissues; Anteverted nares; Brachydactyly; Clinodactyly; Coarse facial features; Constipation; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Dolichocephaly; Drooling; Epicanthus; Exotropia; Gastroesophageal reflux; Genu valgum; High palate; Hyperactivity; Hyperreflexia; Hypertelorism; Hypogonadism; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability, progressive; Intellectual disability, severe; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Microcephaly; Micrognathia; Micropenis; Microtia; Midface retrusion; Narrow forehead; Obesity; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Pes planus; Phenotypic variability; Posteriorly rotated ears; Protruding tongue; Ptosis; Radial deviation of finger; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Short neck; Short stature; Short upper lip; Slender finger; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Triangular nasal tip; U-Shaped upper lip vermilion; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked recessive inheritance

Associated Genes ATRX (Withdrawn symbols: JMS, MRX52, RAD54, XH2, XNP )

Mouse Orthologs Atrx (Withdrawn symbols: 4833408C14Rik, AI447451, DXHXS6677E, Hp1bp2, Rad54, Xnp )

Source OMIM:309580 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Models phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.