A genome-wide SNP scan and sequence analyses identified a homozygous frameshift mutation (NM_130468.2:c.145delG, NP_569735.1:p.Val49*) in CHST14, encoding dermatan-4-sulfotransferase 1 (D4ST-1), in two Turkish siblings. [scicrunch.org]

A genome-wide SNP scan and sequence analyses identified a homozygous frameshift mutation (NM_130468.2:c.145delG, NP_569735.1:p.val49*) in CHST14, encoding dermatan-4- sulfotransferase 1 (D4ST-1), in two Turkish siblings. [orbi.uliege.be]

Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ANKH COL2A1 COL1A1 FBN1 SLC39A13 CTSK FAM20C FGFR3 COL10A1 PTPN11 More info about this panel Congenital Disorders of Glycosylation: Deletion/Duplication [mendelian.co]

Hirsutism. Tooth abnormalities. Refractive errors (myopia, astigmatism). Strabismus. Kyphoscoliotic Ehlers-Danlos syndrome [ 7, 14 ] Kyphoscoliotic EDS (kEDS) is a rare, autosomal recessive EDS which has been described only around 60 times. [patient.info]

Besides progressive kyphoscoliosis, muscle hypotonia, joint hypermobility, hyperextensible skin, and myopathy, sensorineural hearing loss is especially characteristic for this type of EDS. [medical-genetics.de]

Congenital muscle hypotonia; 2. Congenital or early onset kyphoscoliosis (progressive or non-progressive); and 3. [raredr.com]

Major criteria are: Short stature (progressive in childhood); Muscle hypotonia (ranging from severe congenital, to mild later-onset); and Bowing of limbs. [ehlers-danlos.com]

Diagnosis requires congenital muscle hypotonia and congenital or early-onset kyphoscoliosis, plus either GJH or three minor criteria. Confirmatory testing is needed for a final diagnosis. Major criteria Congenital muscle hypotonia. [patient.info]

The, ehlers, danlos, society 4 Spondylodysplastic eds (spEDS) characterized by short stature (progressive in childhood muscle hypotonia (ranging from severe congenital, to mild later-onset and bowing of limbs. 4 Musculocontractural eds (mcEDS) characterized [stotmo.jeuk.amsterdam]

Strabismus, refractive errors, and elevated intraocular pressure, as well as hearing impairment are common in these patients. Patients present with muscle hypoplasia and weakness, and there is evidence for an underlying myopathy. [oxfordmedicine.com]

impairment ; Hiatus hernia ; High palate ; Hydronephrosis ; Hyperalgesia ; Hyperextensible skin ; Hypertelorism ; Intellectual disability ; Intestinal malrotation ; Joint dislocation ; Joint laxity ; Large fontanelles ; Long philtrum ; Microcornea ; [mousephenotype.org]

Both also had hearing impairment of high-pitched sounds, recurrent urinary tract infections with an enlarged or atonic bladder, and constipation. [omim.org]

[…] skin Skin fragility 0001030 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Generalized joint laxity Hypermobility of all joints Increased joint mobility [ more ] 0002761 Glaucoma 0000501 Global developmental delay 0001263 Hearing [rarediseases.info.nih.gov]

sclerae ; Brachycephaly ; Broad forehead ; Bruising susceptibility ; Cleft palate ; Constipation ; Cryptorchidism ; Delayed cranial suture closure ; Diastasis recti ; Distal arthrogryposis ; Downslanted palpebral fissures ; Ecchymosis ; Facial asymmetry [mousephenotype.org]

sclerae, thin and hyperelastic skin, muscle atrophy Recessive SLC39A13 Comprehensive EDS Panel Please consult the Ehlers-Danlos Syndrome Test Guide for more information. [uwcpdx.org]

Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB Fragilitas Oculi With Joint Hyperextensibility BCS1 EDS6B 229200 Genetic Test [ukgtn.nhs.uk]

sclerae and fragile, hyperextensible skin. [omim.org]

[…] symbols: D4ST-1, D4ST1, HD4ST ) Mouse Orthologs Chst14 (Withdrawn symbols: 2600016L03Rik, D4st1 ) Source OMIM:601776 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes [mousephenotype.org]