TaoMedAI/RareMedData huggingface dataset:
Gene: ABHD5
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Nystagmus (HP:0000639)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Ketosis (HP:0001946)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Abnormal granulocyte morphology (HP:0001911)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Ectropion (HP:0000656)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Ectropion (HP:0000656)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Short stature (HP:0004322)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Myopathy (HP:0003198)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Myopathy (HP:0003198)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Alopecia (HP:0001596)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Alopecia (HP:0001596)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Obesity (HP:0001513)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Small earlobe (HP:0000385)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Strabismus (HP:0000486)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Strabismus (HP:0000486)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Eclabion (HP:0012472)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Ptosis (HP:0000508)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: MECR
Phenotype: Limb dystonia (HP:0002451)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Motor delay (HP:0001270)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Hypotonia (HP:0001252)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Hypotonia (HP:0001252)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Ataxia (HP:0001251)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Ataxia (HP:0001251)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Dysarthria (HP:0001260)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Spasticity (HP:0001257)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Spasticity (HP:0001257)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Axial dystonia (HP:0002530)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Esophoria (HP:0025312)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Esophoria (HP:0025312)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Dystonia (HP:0001332)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OPTIC ATROPHY 16 (OMIM:620629)
Gene: MECR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Myoclonus (HP:0001336)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Myoclonus (HP:0001336)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPTIC ATROPHY 16 (OMIM:620629)
Gene: MECR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: OPTIC ATROPHY 16 (OMIM:620629)
Gene: MECR
Phenotype: Striatal T2 hyperintensity (HP:0031206)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Dysphagia (HP:0002015)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Rigidity (HP:0002063)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Chorea (HP:0002072)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Chorea (HP:0002072)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Babinski sign (HP:0003487)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Hemidystonia (HP:0032005)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Progressive (HP:0003676)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Headache (HP:0002315)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Headache (HP:0002315)
Associated disease: OPTIC ATROPHY 16 (OMIM:620629)
Gene: MECR
Phenotype: Dyskinesia (HP:0100660)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Clumsiness (HP:0002312)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Athetosis (HP:0002305)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OPTIC ATROPHY 16 (OMIM:620629)
Gene: MECR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Nystagmus (HP:0000639)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Nystagmus (HP:0000639)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPTIC ATROPHY 16 (OMIM:620629)
Gene: MECR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Blepharospasm (HP:0000643)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Central scotoma (HP:0000603)
Associated disease: OPTIC ATROPHY 16 (OMIM:620629)
Gene: MECR
Phenotype: Involuntary movements (HP:0004305)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Young adult onset (HP:0011462)
Associated disease: OPTIC ATROPHY 16 (OMIM:620629)
Gene: MECR
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MEPAN syndrome; Childhood-onset generalized dystonia-optic atrophy syndrome; Dystonia 29; DYT29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type (ORPHA:508093)
Gene: MECR
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OPTIC ATROPHY 16 (OMIM:620629)
Gene: MECR
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Visual impairment (HP:0000505)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: MECR
Phenotype: Visual loss (HP:0000572)
Associated disease: OPTIC ATROPHY 16 (OMIM:620629)
Gene: MECR
Phenotype: Temporal optic disc pallor (HP:0012511)
Associated disease: OPTIC ATROPHY 16 (OMIM:620629)
Gene: MECR
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Gene: NDUFAF1
Phenotype: Fetal distress (HP:0025116)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Poor head control (HP:0002421)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)