TaoMedAI/RareMedData huggingface dataset:
Gene: EIF2AK3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Ivory epiphyses of the toes (HP:0010168)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Preauricular pit (HP:0004467)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Ivory epiphyses of the phalanges of the hand (HP:0010234)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Jaundice (HP:0000952)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Osteoporosis (HP:0000939)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Microcephaly (HP:0000252)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: High palate (HP:0000218)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Genu valgum (HP:0002857)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Ascites (HP:0001541)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Narrow iliac wing (HP:0002868)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Hip subluxation (HP:0030043)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Growth delay (HP:0001510)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Strabismus (HP:0000486)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Gene: EIF2AK3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: EIF2AK3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF2AK3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF2AK3
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Gene: GGPS1
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Mitochondrial hypertrophy (HP:0033686)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Poor suck (HP:0002033)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Female infertility (HP:0008222)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Short stature (HP:0004322)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Weak cry (HP:0001612)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: GGPS1
Phenotype: Skeletal muscle autophagosome accumulation (HP:0025717)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Gene: HOMER2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 68 (OMIM:616707)
Gene: HOMER2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 68 (OMIM:616707)
Gene: HAND2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HAND2
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HAND2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HAND2
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HAND2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: HAND2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: HAND2
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHST3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CHST3-related skeletal dysplasia; Chondrodysplasia with congenital joint dislocations, CHST3 type; SDCD, CHST3 type; Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type (ORPHA:263463)
Gene: CHST3
Phenotype: Prominent antitragus (HP:0008593)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Broad distal phalanges of all fingers (HP:0009880)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Microtia (HP:0008551)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Motor delay (HP:0001270)
Associated disease: CHST3-related skeletal dysplasia; Chondrodysplasia with congenital joint dislocations, CHST3 type; SDCD, CHST3 type; Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type (ORPHA:263463)
Gene: CHST3
Phenotype: Motor delay (HP:0001270)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CHST3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CHST3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CHST3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CHST3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST3
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CHST3
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CHST3-related skeletal dysplasia; Chondrodysplasia with congenital joint dislocations, CHST3 type; SDCD, CHST3 type; Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type (ORPHA:263463)
Gene: CHST3
Phenotype: Tapered humerus (HP:0003883)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CHST3
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CHST3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CHST3-related skeletal dysplasia; Chondrodysplasia with congenital joint dislocations, CHST3 type; SDCD, CHST3 type; Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type (ORPHA:263463)
Gene: CHST3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST3
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: CHST3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CHST3-related skeletal dysplasia; Chondrodysplasia with congenital joint dislocations, CHST3 type; SDCD, CHST3 type; Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type (ORPHA:263463)
Gene: CHST3
Phenotype: Joint dislocation (HP:0001373)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CHST3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CHST3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CHST3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)