TaoMedAI/RareMedData huggingface dataset:
Gene: TBCD
Phenotype: Developmental regression (HP:0002376)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Hirsutism (HP:0001007)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Low hanging columella (HP:0009765)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Absent smooth pursuit (HP:0007179)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Absent smooth pursuit (HP:0007179)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Nystagmus (HP:0000639)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Retractile testis (HP:0012646)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Synophrys (HP:0000664)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Recurrent long bone fractures (HP:0003084)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Microcephaly (HP:0000252)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Growth delay (HP:0001510)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Growth delay (HP:0001510)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Narrow forehead (HP:0000341)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Micrognathia (HP:0000347)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Micrognathia (HP:0000347)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Macrotia (HP:0000400)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Strabismus (HP:0000486)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCE
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Anarthria (HP:0002425)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Tetany (HP:0001281)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Tetany (HP:0001281)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Seizure (HP:0001250)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Seizure (HP:0001250)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Ataxia (HP:0001251)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Dysarthria (HP:0001260)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Dysarthria (HP:0001260)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Spasticity (HP:0001257)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Hypoplasia of penis (HP:0008736)
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: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Cryptorchidism (HP:0000028)
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: Postnatal growth retardation (HP:0008897)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Postnatal growth retardation (HP:0008897)
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: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Severe intrauterine growth retardation (HP:0008846)
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: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Absent speech (HP:0001344)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Scoliosis (HP:0002650)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Scoliosis (HP:0002650)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Bifid uvula (HP:0000193)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Abnormality of the dentition (HP:0000164)
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: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Delayed skeletal maturation (HP:0002750)
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 skeletal maturation (HP:0002750)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBCE
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Congenital hypoparathyroidism (HP:0008198)
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: Congenital hypoparathyroidism (HP:0008198)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Gene: TBCE
Phenotype: Congenital hypoparathyroidism (HP:0008198)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Congenital hypoparathyroidism (HP:0008198)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Gene: TBCE
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Gene: TBCE
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Ventriculomegaly (HP:0002119)
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: EMG: chronic denervation signs (HP:0003444)
Associated disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Gene: TBCE
Phenotype: Spinal canal stenosis (HP:0003416)
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: Hypocalcemic seizures (HP:0002199)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)