TaoMedAI/RareMedData huggingface dataset:
Gene: FRMD4A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Growth delay (HP:0001510)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Low-set ears (HP:0000369)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Strabismus (HP:0000486)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Strabismus (HP:0000486)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Protruding ear (HP:0000411)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: VAC14
Phenotype: Tapered finger (HP:0001182)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Syndactyly (HP:0001159)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Excessive salivation (HP:0003781)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Aplasia of the distal phalanges of the hand (HP:0009881)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Hypertonia (HP:0001276)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Hypotonia (HP:0001252)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Micropenis (HP:0000054)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Hypospadias (HP:0000047)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Abnormal parietal bone morphology (HP:0002696)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Dystonia (HP:0001332)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Pachygyria (HP:0001302)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Short upper lip (HP:0000188)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Dysphagia (HP:0002015)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Steppage gait (HP:0003376)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Developmental regression (HP:0002376)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Progressive (HP:0003676)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Unsteady gait (HP:0002317)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Slender long bones with narrow diaphyses (HP:0004993)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Absent thumb (HP:0009777)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Drooling (HP:0002307)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Aplasia/hypoplasia of the 1st metatarsal (HP:0010067)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Aplasia of the 1st metacarpal (HP:0010035)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Short stature (HP:0004322)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Childhood onset (HP:0011463)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Ankle clonus (HP:0011448)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Aplasia of the distal phalanx of the hallux (HP:0010102)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Short proximal phalanx of hallux (HP:0010107)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Short ribs (HP:0000773)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Shortening of all distal phalanges of the toes (HP:0005793)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Narrow nasal base (HP:0012809)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Hypertension (HP:0000822)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Gene: VAC14
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Gingival recession (HP:0030816)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Abnormal pelvis bone morphology (HP:0040163)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Short finger (HP:0009381)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Abnormal occipital bone morphology (HP:0012294)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VAC14
Phenotype: Broad secondary alveolar ridge (HP:0000216)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: VAC14
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VAC14
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)