TaoMedAI/RareMedData huggingface dataset:
Gene: TBCE
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Congenital onset (HP:0003577)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Difficulty standing (HP:0003698)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Developmental regression (HP:0002376)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Progressive (HP:0003676)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Small hand (HP:0200055)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Small hand (HP:0200055)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Small hand (HP:0200055)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Small hand (HP:0200055)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Progressive spastic paraparesis (HP:0007199)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Short palm (HP:0004279)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Short palm (HP:0004279)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Anemia (HP:0001903)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Iron accumulation in substantia nigra (HP:0012678)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Carious teeth (HP:0000670)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Carious teeth (HP:0000670)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Short stature (HP:0004322)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Patchy osteosclerosis (HP:0005686)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Patchy osteosclerosis (HP:0005686)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Childhood onset (HP:0011463)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Slender long bone (HP:0003100)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Myopathy (HP:0003198)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Long clavicles (HP:0000890)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Thin ribs (HP:0000883)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Thin ribs (HP:0000883)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Stenosis of the medullary cavity of the long bones (HP:0100254)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Aplasia/Hypoplasia affecting the eye (HP:0008056)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Full cheeks (HP:0000293)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Thin long bone diaphyses (HP:0006470)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Microcephaly (HP:0000252)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Growth abnormality (HP:0001507)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Growth delay (HP:0001510)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Growth delay (HP:0001510)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Low-set ears (HP:0000369)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Long philtrum (HP:0000343)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Long philtrum (HP:0000343)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: High forehead (HP:0000348)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Micrognathia (HP:0000347)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Hypertelorism (HP:0000316)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Thin clavicles (HP:0006645)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Thin clavicles (HP:0006645)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Astigmatism (HP:0000483)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Deeply set eye (HP:0000490)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Delayed myelination (HP:0012448)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Short foot (HP:0001773)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Short foot (HP:0001773)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Short foot (HP:0001773)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Short foot (HP:0001773)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Sanjad-Sakati syndrome; SSS; Richardson-Kirk syndrome; HRD syndrome (ORPHA:2323)
Gene: TBCE
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Calvarial osteosclerosis (HP:0005450)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Calvarial osteosclerosis (HP:0005450)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)