TaoMedAI/RareMedData huggingface dataset:
Gene: FASTKD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Proteinuria (HP:0000093)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Slurred speech (HP:0001350)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Anemia (HP:0001903)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Glycosuria (HP:0003076)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: High palate (HP:0000218)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Increased hepatocellular lipid droplets (HP:0006565)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (OMIM:618855)
Gene: FASTKD2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: FASTKD2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: NLGN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 20 (OMIM:618830)
Gene: NLGN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 20 (OMIM:618830)
Gene: NLGN1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 20 (OMIM:618830)
Gene: NLGN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 20 (OMIM:618830)
Gene: NLGN1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 20 (OMIM:618830)
Gene: NLGN1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: AUTISM, SUSCEPTIBILITY TO, 20 (OMIM:618830)
Gene: SEC31A
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Semilobar holoprosencephaly (HP:0002507)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Death in childhood (HP:0003819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Aspiration (HP:0002835)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Colpocephaly (HP:0030048)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Triangular face (HP:0000325)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Developmental cataract (HP:0000519)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: SEC31A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618651)
Gene: DZIP1
Phenotype: Typified by age-related disease onset (HP:0003831)
Associated disease: MITRAL VALVE PROLAPSE 3 (OMIM:610840)
Gene: DZIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 47 (OMIM:619102)
Gene: DZIP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DZIP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MITRAL VALVE PROLAPSE 3 (OMIM:610840)
Gene: DZIP1
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 47 (OMIM:619102)
Gene: DZIP1
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 47 (OMIM:619102)
Gene: DZIP1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DZIP1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 47 (OMIM:619102)
Gene: DZIP1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DZIP1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 47 (OMIM:619102)
Gene: DZIP1
Phenotype: Immotile sperm (HP:0012208)
Associated disease: SPERMATOGENIC FAILURE 47 (OMIM:619102)
Gene: DZIP1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DZIP1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MITRAL VALVE PROLAPSE 3 (OMIM:610840)
Gene: DZIP1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DZIP1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MITRAL VALVE PROLAPSE 3 (OMIM:610840)
Gene: DZIP1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MORC2
Phenotype: Split hand (HP:0001171)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Limb-girdle muscle atrophy (HP:0003797)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Mixed demyelinating and axonal polyneuropathy (HP:0007327)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Decreased distal sensory nerve action potential (HP:0007230)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Myokymia (HP:0002411)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Myokymia (HP:0002411)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Hypertonia (HP:0001276)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Hypertonia (HP:0001276)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Areflexia (HP:0001284)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Seizure (HP:0001250)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Ataxia (HP:0001251)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Inability to walk (HP:0002540)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Waddling gait (HP:0002515)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
Gene: MORC2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: CMT2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2Z; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation (ORPHA:466768)
Gene: MORC2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY (OMIM:619090)
Gene: MORC2
Phenotype: Wrist drop (HP:0031189)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)