TaoMedAI/RareMedData huggingface dataset:
Gene: FIG4
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Small for gestational age (HP:0001518)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Growth delay (HP:0001510)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Abnormality of dental structure (HP:0011061)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Absent hallux (HP:0012386)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Small earlobe (HP:0000385)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Cupped ear (HP:0000378)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Gene: FIG4
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Low-set ears (HP:0000369)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Low-set ears (HP:0000369)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: High forehead (HP:0000348)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Micrognathia (HP:0000347)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Heart murmur (HP:0030148)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Short chin (HP:0000331)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Short philtrum (HP:0000322)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Short philtrum (HP:0000322)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Premature birth (HP:0001622)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Absent sternal ossification (HP:0006628)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Absent sternal ossification (HP:0006628)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Strabismus (HP:0000486)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Anonychia (HP:0001798)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Protruding ear (HP:0000411)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Gene: FIG4
Phenotype: Aplasia/Hypoplasia of the scapulae (HP:0006713)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Aplasia/Hypoplasia of the clavicles (HP:0006710)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Flat occiput (HP:0005469)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Craniofacial disproportion (HP:0005461)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Cataract (HP:0000518)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Cataract (HP:0000518)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FIG4
Phenotype: Proptosis (HP:0000520)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Proptosis (HP:0000520)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Gene: FIG4
Phenotype: Short toe (HP:0001831)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Short toe (HP:0001831)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Absent fingernail (HP:0001817)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varon syndrome (ORPHA:3472)
Gene: FIG4
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: YUNIS-VARON SYNDROME (OMIM:216340)
Gene: FIG4
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FIG4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FIG4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WASHC5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Syndactyly (HP:0001159)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Hypotonia (HP:0001252)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Hypospadias (HP:0000047)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Hypospadias (HP:0000047)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Scoliosis (HP:0002650)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Cleft palate (HP:0000175)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Cleft palate (HP:0000175)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Anal atresia (HP:0002023)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Anal atresia (HP:0002023)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Spinal cord lesion (HP:0100561)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: EMG abnormality (HP:0003457)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Low back pain (HP:0003419)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Clonus (HP:0002169)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Insidious onset (HP:0003587)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Peroneal muscle atrophy (HP:0009049)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)