TaoMedAI/RareMedData huggingface dataset:
Gene: CHD2
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: CHD2
Phenotype: Generalized myoclonic-atonic seizure (HP:0011170)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: CHD2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: CHD2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: CHD2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: CHD2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: CHD3
Phenotype: Stuttering (HP:0025268)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Hypotonia (HP:0001252)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Dysarthria (HP:0001260)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Scoliosis (HP:0002650)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Infantile onset (HP:0003593)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Taurodontia (HP:0000679)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Widened cerebral subarachnoid space (HP:0012766)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Epicanthus (HP:0000286)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: High palate (HP:0000218)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Speech apraxia (HP:0011098)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Low-set ears (HP:0000369)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Astigmatism (HP:0000483)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Strabismus (HP:0000486)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Infantile spasms (HP:0012469)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Prominent nose (HP:0000448)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Gene: CHD4
Phenotype: Tapered finger (HP:0001182)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Hypotonia (HP:0001252)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Micropenis (HP:0000054)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Wormian bones (HP:0002645)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Gait imbalance (HP:0002141)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Chiari malformation (HP:0002308)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD4
Phenotype: Short stature (HP:0004322)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD4
Phenotype: Short clavicles (HP:0000894)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Epicanthus (HP:0000286)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Cupped ear (HP:0000378)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Low-set ears (HP:0000369)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD4
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Astigmatism (HP:0000483)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD4
Phenotype: Ptosis (HP:0000508)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: CHD4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Gene: AKR1C4
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Gene: AKR1C4
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Gene: AKR1C4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Gene: AKR1C4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Gene: AKR1C4
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Gene: CHEK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21 (OMIM:620610)
Gene: CHEK1
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21 (OMIM:620610)
Gene: CHEK1
Phenotype: Zygotic cleavage failure (HP:0033336)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21 (OMIM:620610)
Gene: CHEK1
Phenotype: Young adult onset (HP:0011462)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21 (OMIM:620610)
Gene: CHI3L1
Phenotype: Negativism (HP:0410291)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: CHI3L1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: CHI3L1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: CHI3L1
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: CHI3L1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: CHI3L1
Phenotype: Hallucinations (HP:0000738)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: CHI3L1
Phenotype: Delusion (HP:0000746)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: CHKA
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Rigidity (HP:0002063)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Dyskinesia (HP:0100660)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKA
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Gene: CHKB
Phenotype: Poor speech (HP:0002465)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Mitochondrial hypertrophy (HP:0033686)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Waddling gait (HP:0002515)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Facial palsy (HP:0010628)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Myopathy (HP:0003198)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Ichthyosis (HP:0008064)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHKB
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Gene: CHM
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Choroideremia (HP:0001139)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Choroideremia (HP:0001139)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Nummular pigmentation of the fundus (HP:0030505)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Abnormal fundus autofluorescence imaging (HP:0030602)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)