TaoMedAI/RareMedData huggingface dataset:
Gene: COQ6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Uterine leiomyoma (HP:0000131)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Bilateral vestibular schwannoma (HP:0009589)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Paresthesia (HP:0003401)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Peripheral schwannoma (HP:0009593)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Infantile onset (HP:0003593)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Fasciculations (HP:0002380)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Schwannoma (HP:0100008)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Childhood onset (HP:0011463)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Spinal cord tumor (HP:0010302)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Meningioma (HP:0002858)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Tinnitus (HP:0000360)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Weak voice (HP:0001621)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Cataract (HP:0000518)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Pain (HP:0012531)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: ASCC1
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: ASCC1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: ASCC1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Barrett esophagus (HP:0100580)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: ASCC1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Axonal loss (HP:0003447)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Esophageal ulceration (HP:0004791)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: ASCC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: ASCC1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: ASCC1
Phenotype: Premature birth (HP:0001622)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Gene: EXOSC3
Phenotype: Poor head control (HP:0002421)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Motor delay (HP:0001270)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Seizure (HP:0001250)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Hypotonia (HP:0001252)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Ataxia (HP:0001251)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Spasticity (HP:0001257)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Absent speech (HP:0001344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Congenital laryngeal stridor (HP:0004886)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Nystagmus (HP:0000639)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Nystagmus (HP:0000639)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Growth delay (HP:0001510)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Strabismus (HP:0000486)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Strabismus (HP:0000486)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC3
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Gene: EXOSC3
Phenotype: Esotropia (HP:0000565)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Retrognathia (HP:0000278)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Growth delay (HP:0001510)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Long philtrum (HP:0000343)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: High forehead (HP:0000348)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Strabismus (HP:0000486)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Telecanthus (HP:0000506)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: EXOSC1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F (OMIM:619304)
Gene: MRPS16
Phenotype: Brachydactyly (HP:0001156)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Mild fetal ventriculomegaly (HP:0010952)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Lethargy (HP:0001254)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Neonatal death (HP:0003811)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Hypokinesia (HP:0002375)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Edema (HP:0000969)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Small for gestational age (HP:0001518)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Low-set ears (HP:0000369)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: MRPS16
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Gene: PAM16
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Gene: PAM16
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAM16
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAM16
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAM16
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAM16
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Gene: PAM16
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAM16
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAM16
Phenotype: Death in childhood (HP:0003819)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Gene: PAM16
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAM16
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAM16
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Gene: PAM16
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAM16
Phenotype: Iliac crest serration (HP:0008786)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Gene: PAM16
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Gene: PAM16
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAM16
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAM16
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Gene: PAM16
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)