TaoMedAI/RareMedData huggingface dataset:
Gene: GNPAT
Phenotype: Scoliosis (HP:0002650)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Rhizomelia (HP:0008905)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Midface retrusion (HP:0011800)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Congenital onset (HP:0003577)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Knee contracture (HP:0034671)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts (HP:6000426)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Short stature (HP:0004322)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Short humerus (HP:0005792)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Decreased circulating plasmalogen concentration (HP:4000165)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Hip contracture (HP:0003273)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Osteopenia (HP:0000938)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Large fontanelles (HP:0000239)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Microcephaly (HP:0000252)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: High palate (HP:0000218)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Calcific stippling (HP:0002832)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: High forehead (HP:0000348)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Micrognathia (HP:0000347)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Anteverted nares (HP:0000463)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Cataract (HP:0000518)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DHX16
Phenotype: Simple ear (HP:0020206)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Poor head control (HP:0002421)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Respiratory distress (HP:0002098)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Unsteady gait (HP:0002317)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Peripheral hypomyelination (HP:0007182)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Aspiration (HP:0002835)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Chorioretinal lacunae (HP:0007858)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: DHX16
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Gene: CUL4B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Micropenis (HP:0000054)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Hypospadias (HP:0000047)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Absent speech (HP:0001344)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Tremor (HP:0001337)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Tremor (HP:0001337)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Scoliosis (HP:0002650)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Macroglossia (HP:0000158)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Hypogonadism (HP:0000135)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Hypogonadism (HP:0000135)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Wide mouth (HP:0000154)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Broad-based gait (HP:0002136)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Striae distensae (HP:0001065)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: EEG abnormality (HP:0002353)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Open bite (HP:0010807)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Small hand (HP:0200055)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Small hand (HP:0200055)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)
Gene: CUL4B
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
Gene: CUL4B
Phenotype: Short palm (HP:0004279)
Associated disease: X-linked intellectual disability, Cabezas type; Cabezas syndrome (ORPHA:85293)