TaoMedAI/RareMedData huggingface dataset:
Gene: SMG8
Phenotype: Hypodontia (HP:0000668)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Short stature (HP:0004322)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Self-mutilation (HP:0000742)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Dry skin (HP:0000958)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Microcephaly (HP:0000252)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Low-set ears (HP:0000369)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Long philtrum (HP:0000343)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Micrognathia (HP:0000347)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Macrotia (HP:0000400)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Astigmatism (HP:0000483)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Strabismus (HP:0000486)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Brain atrophy (HP:0012444)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Prominent nose (HP:0000448)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Bulbous nose (HP:0000414)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Cataract (HP:0000518)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SMG8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Gene: SMG8
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RNF220
Phenotype: Motor delay (HP:0001270)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: RNF220
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Gene: SLC25A36
Phenotype: Expressive language delay (HP:0002474)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Short stature (HP:0004322)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Growth delay (HP:0001510)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: SLC25A36
Phenotype: Chronic constipation (HP:0012450)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Gene: VPS13D
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Motor delay (HP:0001270)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Dystonia (HP:0001332)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Myoclonus (HP:0001336)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Abnormal visual fixation (HP:0025404)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Dyslexia (HP:0010522)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Fasciculations (HP:0002380)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Macrosaccadic oscillations (HP:0032105)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Impaired executive functioning (HP:0033051)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Torticollis (HP:0000473)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Pes cavus (HP:0001761)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: VPS13D
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Gene: VPS13D
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: SCAR4; Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCASI (ORPHA:95434)
Gene: NADSYN1
Phenotype: Bilateral renal agenesis (HP:0010958)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Ureteral atresia (HP:0005999)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Short long bone (HP:0003026)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)