TaoMedAI/RareMedData huggingface dataset:
Gene: INTS11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Small forehead (HP:0000350)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Triangular face (HP:0000325)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Premature birth (HP:0001622)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Astigmatism (HP:0000483)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Wide nose (HP:0000445)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Myopia (HP:0000545)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: THG1L
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Motor delay (HP:0001270)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Short stature (HP:0004322)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Truncal titubation (HP:0030147)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: THG1L
Phenotype: Myopia (HP:0000545)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Gene: SLC25A38
Phenotype: Hypochromia (HP:0032231)
Associated disease: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY (OMIM:205950)
Gene: SLC25A38
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY (OMIM:205950)
Gene: SLC25A38
Phenotype: Infantile onset (HP:0003593)
Associated disease: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY (OMIM:205950)
Gene: SLC25A38
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY (OMIM:205950)
Gene: SLC25A38
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY (OMIM:205950)
Gene: SLC25A38
Phenotype: Anemia (HP:0001903)
Associated disease: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY (OMIM:205950)
Gene: SLC25A38
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY (OMIM:205950)
Gene: SLC25A38
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY (OMIM:205950)
Gene: CLN6
Phenotype: Mental deterioration (HP:0001268)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Seizure (HP:0001250)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 (OMIM:601780)
Gene: CLN6
Phenotype: Ataxia (HP:0001251)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 (OMIM:601780)
Gene: CLN6
Phenotype: Myoclonus (HP:0001336)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Abnormal nervous system electrophysiology (HP:0001311)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 (OMIM:601780)
Gene: CLN6
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Increased neuronal autofluorescent lipopigment (HP:0002074)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Increased neuronal autofluorescent lipopigment (HP:0002074)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 (OMIM:601780)
Gene: CLN6
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Middle age onset (HP:0003596)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Late onset (HP:0003584)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Adult onset (HP:0003581)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Visual hallucination (HP:0002367)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Motor deterioration (HP:0002333)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 (OMIM:601780)
Gene: CLN6
Phenotype: Vascular granular osmiophilic material deposition (HP:0003657)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Depression (HP:0000716)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Dementia (HP:0000726)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Young adult onset (HP:0011462)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003226)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material (HP:0003208)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material (HP:0003208)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 (OMIM:601780)
Gene: CLN6
Phenotype: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 (OMIM:601780)
Gene: CLN6
Phenotype: Status epilepticus without prominent motor symptoms (HP:0031475)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Gene: CLN6
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 (OMIM:601780)
Gene: CLN6
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 (OMIM:601780)
Gene: RMND1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Areflexia (HP:0001284)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Lethargy (HP:0001254)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Stillbirth (HP:0003826)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Death in childhood (HP:0003819)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Neonatal death (HP:0003811)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Absent speech (HP:0001344)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Myoclonus (HP:0001336)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Pachygyria (HP:0001302)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Renal cyst (HP:0000107)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Myopathy (HP:0003198)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: RMND1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Gene: PPP2R3C
Phenotype: Broad palm (HP:0001169)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPERMATOGENIC FAILURE 36 (OMIM:618420)
Gene: PPP2R3C
Phenotype: Scoliosis (HP:0002650)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Anal atresia (HP:0002023)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Bifid distal phalanx of the thumb (HP:0009611)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Congenital onset (HP:0003577)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Short palm (HP:0004279)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Hypodontia (HP:0000668)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Short stature (HP:0004322)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 36 (OMIM:618420)
Gene: PPP2R3C
Phenotype: Abnormal sperm morphology (HP:0012864)
Associated disease: SPERMATOGENIC FAILURE 36 (OMIM:618420)
Gene: PPP2R3C
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 36 (OMIM:618420)
Gene: PPP2R3C
Phenotype: Dry skin (HP:0000958)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Scaling skin (HP:0040189)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Epicanthus (HP:0000286)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Diastasis recti (HP:0001540)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Omphalocele (HP:0001539)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Small for gestational age (HP:0001518)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Flat face (HP:0012368)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Overfolded helix (HP:0000396)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Hypoplasia of the lacrimal punctum (HP:0007892)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)