TaoMedAI/RareMedData huggingface dataset:
Gene: RERE
Phenotype: Microcephaly (HP:0000252)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Brachycephaly (HP:0000248)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Obesity (HP:0001513)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Hearing impairment (HP:0000365)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Long philtrum (HP:0000343)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Widow's peak (HP:0000349)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Micrognathia (HP:0000347)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Triangular face (HP:0000325)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Pointed chin (HP:0000307)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Hypoplastic anterior commissure (HP:0030303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Annular pancreas (HP:0001734)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Annular pancreas (HP:0001734)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Astigmatism (HP:0000483)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Astigmatism (HP:0000483)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Strabismus (HP:0000486)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Strabismus (HP:0000486)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Deeply set eye (HP:0000490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Small nail (HP:0001792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Anteverted nares (HP:0000463)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Short foot (HP:0001773)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Choanal atresia (HP:0000453)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Choanal atresia (HP:0000453)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Cataract (HP:0000518)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Ptosis (HP:0000508)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Visual impairment (HP:0000505)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Prominent stem of antihelix (HP:0011240)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Exotropia (HP:0000577)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Coloboma (HP:0000589)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Microphthalmia (HP:0000568)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Microphthalmia (HP:0000568)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Esotropia (HP:0000565)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Myopia (HP:0000545)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: ATOH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 89 (OMIM:620284)
Gene: ATOH1
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 89 (OMIM:620284)
Gene: ATOH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 89 (OMIM:620284)
Gene: ATOH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 89 (OMIM:620284)
Gene: ATP1A1
Phenotype: Poor speech (HP:0002465)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Self-biting (HP:0012169)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Renal potassium wasting (HP:0000128)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Renal potassium wasting (HP:0000128)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Polyuria (HP:0000103)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Adult onset (HP:0003581)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Cerebral hypoplasia (HP:0006872)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Renal magnesium wasting (HP:0005567)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Renal magnesium wasting (HP:0005567)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Episodic hypokalemia (HP:0012726)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Gene: ATP1A1
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Gene: ATP1A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Gene: ATP1A2
Phenotype: Bulbar signs (HP:0002483)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Language impairment (HP:0002463)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Transient unilateral blurring of vision (HP:0001125)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Clonic seizure (HP:0020221)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Facial paralysis (HP:0007209)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP1A2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP1A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP1A2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Gene: ATP1A2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP1A2
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP1A2
Phenotype: Confusion (HP:0001289)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: ATP1A2
Phenotype: Confusion (HP:0001289)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Gene: ATP1A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP1A2
Phenotype: Areflexia (HP:0001284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: ATP1A2
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)