TaoMedAI/RareMedData huggingface dataset:
Gene: ATPAF2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Short stature (HP:0004322)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Retrognathia (HP:0000278)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Anisocytosis (HP:0011273)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Cataract (HP:0000518)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: NLRP12
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Arthritis (HP:0001369)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Abdominal pain (HP:0002027)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Myalgia (HP:0003326)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Infantile onset (HP:0003593)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Urticaria (HP:0001025)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Headache (HP:0002315)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Neonatal onset (HP:0003623)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Recurrent fever (HP:0001954)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Pharyngalgia (HP:0033050)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Skin rash (HP:0000988)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Arthralgia (HP:0002829)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Splenomegaly (HP:0001744)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NLRP12
Phenotype: Lower limb pain (HP:0012514)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Gene: NEK9
Phenotype: Adducted thumb (HP:0001181)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Spina bifida (HP:0002414)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Stiff neck (HP:0025258)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Comedo (HP:0025249)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Seizure (HP:0001250)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Scoliosis (HP:0002650)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Overriding aorta (HP:0002623)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Narrow palate (HP:0000189)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Macroglossia (HP:0000158)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: NEVUS COMEDONICUS (OMIM:617025)
Gene: NEK9
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Asthma (HP:0002099)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Hamartoma (HP:0010566)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Nevus comedonicus (HP:0020154)
Associated disease: NEVUS COMEDONICUS (OMIM:617025)
Gene: NEK9
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Antenatal onset (HP:0030674)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Short long bone (HP:0003026)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Narrow chest (HP:0000774)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Broad ribs (HP:0000885)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Full cheeks (HP:0000293)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Microcephaly (HP:0000252)
Associated disease: Nevus comedonicus syndrome (ORPHA:64754)
Gene: NEK9
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: High palate (HP:0000218)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Omphalocele (HP:0001539)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Gene: NEK9
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Low-set ears (HP:0000369)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Long philtrum (HP:0000343)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK9
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK9
Phenotype: Micrognathia (HP:0000347)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Femoral bowing (HP:0002980)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Gene: NEK9
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)