TaoMedAI/RareMedData huggingface dataset:
Gene: FUZ
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Missing ribs (HP:0000921)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Hypertension (HP:0000822)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: FUZ
Phenotype: Absence of the sacrum (HP:0010305)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: FUZ
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Sacral dimple (HP:0000960)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: FUZ
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: FUZ
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HKDC1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 92 (OMIM:619614)
Gene: HKDC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 92 (OMIM:619614)
Gene: HKDC1
Phenotype: Middle age onset (HP:0003596)
Associated disease: RETINITIS PIGMENTOSA 92 (OMIM:619614)
Gene: HKDC1
Phenotype: Paracentral scotoma (HP:0030528)
Associated disease: RETINITIS PIGMENTOSA 92 (OMIM:619614)
Gene: HKDC1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 92 (OMIM:619614)
Gene: HKDC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 92 (OMIM:619614)
Gene: HKDC1
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 92 (OMIM:619614)
Gene: HKDC1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 92 (OMIM:619614)
Gene: FBXO11
Phenotype: Tapered finger (HP:0001182)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Duane anomaly (HP:0009921)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Microtia (HP:0008551)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Tall stature (HP:0000098)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Narrow mouth (HP:0000160)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Cleft palate (HP:0000175)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Wide mouth (HP:0000154)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Cleft lip (HP:0410030)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Recurrent infections (HP:0002719)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Constipation (HP:0002019)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Vomiting (HP:0002013)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Frontal bossing (HP:0002007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Asthma (HP:0002099)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Syringomyelia (HP:0003396)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Pneumothorax (HP:0002107)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Esodeviation (HP:0020045)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Striae distensae (HP:0001065)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Developmental regression (HP:0002376)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Hirsutism (HP:0001007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Short uvula (HP:0010812)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Small hand (HP:0200055)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Tube feeding (HP:0033454)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Blepharochalasis (HP:0010749)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Short palm (HP:0004279)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Bilateral camptodactyly (HP:0005617)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Hyperactivity (HP:0000752)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Short attention span (HP:0000736)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Slender long bone (HP:0003100)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Short nose (HP:0003196)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Pectus excavatum of inferior sternum (HP:0000915)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Preauricular pit (HP:0004467)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Osteopenia (HP:0000938)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Coarse facial features (HP:0000280)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Full cheeks (HP:0000293)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Long face (HP:0000276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Clinodactyly (HP:0030084)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Brachycephaly (HP:0000248)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Sleep onset insomnia (HP:0031354)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Broad finger (HP:0001500)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Obesity (HP:0001513)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: High myopia (HP:0011003)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Broad forehead (HP:0000337)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: High forehead (HP:0000348)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Micrognathia (HP:0000347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)