TaoMedAI/RareMedData huggingface dataset:
Gene: WDR26
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Infantile onset (HP:0003593)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Hirsutism (HP:0001007)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Absent cupid's bow (HP:0010800)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Absent cupid's bow (HP:0010800)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Small hand (HP:0200055)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Osteopathia striata (HP:0010740)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Abducens palsy (HP:0006897)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Amblyopia (HP:0000646)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Amblyopia (HP:0000646)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Pineal cyst (HP:0012683)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Pineal cyst (HP:0012683)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Abnormal Eustachian tube morphology (HP:0040115)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Short nasal bridge (HP:0003194)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Happy demeanor (HP:0040082)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Full cheeks (HP:0000293)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Full cheeks (HP:0000293)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Microcephaly (HP:0000252)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Increased axial length of the globe (HP:0007800)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Micrognathia (HP:0000347)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Micrognathia (HP:0000347)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Short philtrum (HP:0000322)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Strabismus (HP:0000486)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Strabismus (HP:0000486)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Short foot (HP:0001773)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Pes cavus (HP:0001761)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Pes cavus (HP:0001761)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Proptosis (HP:0000520)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: WDR26
Phenotype: Myopia (HP:0000545)
Associated disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Gene: WDR26
Phenotype: Myopia (HP:0000545)
Associated disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Gene: CEP63
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SECKEL SYNDROME 6 (OMIM:614728)
Gene: CEP63
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SECKEL SYNDROME 6 (OMIM:614728)
Gene: CEP63
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Congenital onset (HP:0003577)
Associated disease: SECKEL SYNDROME 6 (OMIM:614728)
Gene: CEP63
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Short stature (HP:0004322)
Associated disease: SECKEL SYNDROME 6 (OMIM:614728)
Gene: CEP63
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SECKEL SYNDROME 6 (OMIM:614728)
Gene: CEP63
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: SECKEL SYNDROME 6 (OMIM:614728)
Gene: CEP63
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)