TaoMedAI/RareMedData huggingface dataset:
Gene: WAC
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Gene: WAC
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Del(10)(p11.21p12.31); 10p12p11 microdeletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Deletion 10p11.21p12.31 (ORPHA:284169)
Gene: WAC
Phenotype: Myopia (HP:0000545)
Associated disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Gene: SPG21
Phenotype: Primitive reflex (HP:0002476)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Primitive reflex (HP:0002476)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Hypertonia (HP:0001276)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Motor delay (HP:0001270)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Dysarthria (HP:0001260)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Personality disorder (HP:0012075)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Dysphagia (HP:0002015)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Babinski sign (HP:0003487)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Apraxia (HP:0002186)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Apraxia (HP:0002186)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Incoordination (HP:0002311)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Athetosis (HP:0002305)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Akinetic mutism (HP:0012672)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Dementia (HP:0000726)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Childhood onset (HP:0011463)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: SPG21
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Autosomal recessive spastic paraplegia type 21; SPG21; Mast syndrome (ORPHA:101001)
Gene: SPG21
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: MAST SYNDROME (OMIM:248900)
Gene: DACT1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Craniorachischisis (ORPHA:63260)
Gene: DACT1
Phenotype: Limbal dermoid (HP:0001140)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Abnormal tragus morphology (HP:0009912)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Microtia (HP:0008551)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Gene: DACT1
Phenotype: Microtia (HP:0008551)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Gene: DACT1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Hypospadias (HP:0000047)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Gene: DACT1
Phenotype: Hypospadias (HP:0000047)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Gene: DACT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Gene: DACT1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Gene: DACT1
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Bifid uterus (HP:0000136)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Gene: DACT1
Phenotype: Wide mouth (HP:0000154)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Anal atresia (HP:0002023)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Gene: DACT1
Phenotype: Anal atresia (HP:0002023)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Craniorachischisis (ORPHA:63260)
Gene: DACT1
Phenotype: Constipation (HP:0002019)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Sirenomelia (HP:0010497)
Associated disease: Craniorachischisis (ORPHA:63260)
Gene: DACT1
Phenotype: Urethral valve (HP:0010481)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Rectoperineal fistula (HP:0004792)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)
Gene: DACT1
Phenotype: Anencephaly (HP:0002323)
Associated disease: Craniorachischisis (ORPHA:63260)
Gene: DACT1
Phenotype: Absent toe (HP:0010760)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Chiari malformation (HP:0002308)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Broad thumb (HP:0011304)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Short stature (HP:0004322)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Craniorachischisis (ORPHA:63260)
Gene: DACT1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: DACT1
Phenotype: Cervical spina bifida (HP:0005857)
Associated disease: Craniorachischisis (ORPHA:63260)
Gene: DACT1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: TOWNES-BROCKS SYNDROME 2 (OMIM:617466)