TaoMedAI/RareMedData huggingface dataset:
Gene: MRPS22
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: OVARIAN DYSGENESIS 7 (OMIM:618117)
Gene: MRPS22
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: OVARIAN DYSGENESIS 7 (OMIM:618117)
Gene: MRPS22
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OVARIAN DYSGENESIS 7 (OMIM:618117)
Gene: MRPS22
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Short stature (HP:0004322)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Osteoporosis of vertebrae (HP:0005625)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Antenatal onset (HP:0030674)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Third trimester onset (HP:0034197)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: OVARIAN DYSGENESIS 7 (OMIM:618117)
Gene: MRPS22
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Delayed puberty (HP:0000823)
Associated disease: OVARIAN DYSGENESIS 7 (OMIM:618117)
Gene: MRPS22
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Edema (HP:0000969)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Osteopenia (HP:0000938)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Retrognathia (HP:0000278)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Microcephaly (HP:0000252)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Ascites (HP:0001541)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Growth delay (HP:0001510)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Fetal skin edema (HP:0025672)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MRPS22
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Low-set ears (HP:0000369)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MRPS22
Phenotype: Delayed myelination (HP:0012448)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Gene: MFF
Phenotype: Auditory sensitivity (HP:0025112)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Motor delay (HP:0001270)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Motor delay (HP:0001270)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Seizure (HP:0001250)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Hypotonia (HP:0001252)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Spasticity (HP:0001257)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Spasticity (HP:0001257)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Inability to walk (HP:0002540)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Death in childhood (HP:0003819)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Abnormal mitochondrial shape (HP:0012087)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Absent speech (HP:0001344)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Dysphagia (HP:0002015)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Dysphagia (HP:0002015)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Developmental regression (HP:0002376)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Developmental regression (HP:0002376)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Progressive (HP:0003676)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Abnormal thalamic MRI signal intensity (HP:0012696)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Abnormal nonverbal communicative behavior (HP:0000758)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Growth delay (HP:0001510)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Growth delay (HP:0001510)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Visual impairment (HP:0000505)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Visual impairment (HP:0000505)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: MFF
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)
Gene: MFF
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome; Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
Gene: FAM20C
Phenotype: Brachydactyly (HP:0001156)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Mandibular aplasia (HP:0009939)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Neonatal death (HP:0003811)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Hydroureter (HP:0000072)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20C
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Narrow mouth (HP:0000160)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Cleft palate (HP:0000175)
Associated disease: RAINE SYNDROME (OMIM:259775)
Gene: FAM20C
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20C
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: Raine syndrome; Osteosclerotic bone dysplasia (ORPHA:1832)
Gene: FAM20C
Phenotype: Wide mouth (HP:0000154)
Associated disease: RAINE SYNDROME (OMIM:259775)