TaoMedAI/RareMedData huggingface dataset:
Gene: ZSWIM6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Parietal foramina (HP:0002697)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Large sella turcica (HP:0002690)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Large sella turcica (HP:0002690)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Basilar artery fenestration (HP:6000787)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Stereotypical body rocking (HP:0012172)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Open mouth (HP:0000194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Cleft palate (HP:0000175)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Wide mouth (HP:0000154)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Constipation (HP:0002019)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Hypoplasia of the olfactory bulb (HP:0040326)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Submucous cleft soft palate (HP:0011819)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Bifid nose (HP:0011803)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Bifid nose (HP:0011803)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Encephalocele (HP:0002084)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Encephalocele (HP:0002084)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Abnormality of the glabella (HP:0002056)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Broad-based gait (HP:0002136)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Choroid plexus cyst (HP:0002190)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Choroid plexus cyst (HP:0002190)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Vertical clivus (HP:0010559)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Persistent falcine venous sinus (HP:6000295)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Pica (HP:0011856)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Congenital onset (HP:0003577)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Unsteady gait (HP:0002317)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Mesomelic leg shortening (HP:0004987)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Midline facial cleft (HP:0100629)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Broad columella (HP:0010761)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Midline central nervous system lipomas (HP:0006866)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Midline central nervous system lipomas (HP:0006866)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Median cleft palate (HP:0009099)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Tubulonodular pericallosal lipoma (HP:0034014)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Retrocerebellar cyst (HP:0006951)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Retrocerebellar cyst (HP:0006951)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Late first trimester onset (HP:0034199)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Tics (HP:0100033)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Aplasia/Hypoplasia of the tibia (HP:0005772)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Short tibia (HP:0005736)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Happy demeanor (HP:0040082)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Low-set ears (HP:0000369)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)