TaoMedAI/RareMedData huggingface dataset:
Gene: SPECC1L
Phenotype: Sporadic (HP:0003745)
Associated disease: FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251)
Gene: SPECC1L
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Panic attack (HP:0025269)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251)
Gene: SPECC1L
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251)
Gene: SPECC1L
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Cleft palate (HP:0000175)
Associated disease: FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251)
Gene: SPECC1L
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Female pseudohermaphroditism (HP:0010458)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Congenital onset (HP:0003577)
Associated disease: FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251)
Gene: SPECC1L
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Hypopigmented macule (HP:0020073)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Small hand (HP:0200055)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Dimple chin (HP:0010751)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Dental crowding (HP:0000678)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Natal tooth (HP:0000695)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Short stature (HP:0004322)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Anxiety (HP:0000739)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Autistic behavior (HP:0000729)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Short nose (HP:0003196)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Short nose (HP:0003196)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Preauricular pit (HP:0004467)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Preauricular pit (HP:0004467)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Arrhythmia (HP:0011675)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Omphalocele (HP:0001539)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Omphalocele (HP:0001539)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251)
Gene: SPECC1L
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Low-set ears (HP:0000369)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Long philtrum (HP:0000343)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Widow's peak (HP:0000349)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Widow's peak (HP:0000349)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Micrognathia (HP:0000347)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Round face (HP:0000311)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Strabismus (HP:0000486)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Tessier number 4 facial cleft (HP:0031576)
Associated disease: FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251)
Gene: SPECC1L
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Proptosis (HP:0000520)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPECC1L
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Ptosis (HP:0000508)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Short toe (HP:0001831)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Coloboma (HP:0000589)
Associated disease: FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251)
Gene: SPECC1L
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251)
Gene: SPECC1L
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FACIAL CLEFTING, OBLIQUE, 1 (OMIM:600251)
Gene: SPECC1L
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPECC1L
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NCSTN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACNE INVERSA, FAMILIAL, 1 (OMIM:142690)
Gene: NCSTN
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: ACNE INVERSA, FAMILIAL, 1 (OMIM:142690)
Gene: NCSTN
Phenotype: Acne inversa (HP:0040154)
Associated disease: ACNE INVERSA, FAMILIAL, 1 (OMIM:142690)
Gene: SIK3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Seizure (HP:0001250)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Platybasia (HP:0002691)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Delayed pubic bone ossification (HP:0008788)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Gene: SIK3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)