TaoMedAI/RareMedData huggingface dataset:
Gene: CAPRIN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Gowers sign (HP:0003391)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Cognitive regression (HP:0034332)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Astigmatism (HP:0000483)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Ptosis (HP:0000508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Cleft earlobe (HP:0011265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Myopia (HP:0000545)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: MAB21L1
Phenotype: Poor speech (HP:0002465)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Absence of labia majora (HP:0008729)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Absent scrotum (HP:0008707)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Absent scrotum (HP:0008707)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Slurred speech (HP:0001350)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Absent speech (HP:0001344)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Renal cyst (HP:0000107)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Short columella (HP:0002000)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Postural instability (HP:0002172)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Tented philtrum (HP:0011825)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Tented philtrum (HP:0011825)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Hirsutism (HP:0001007)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Hirsutism (HP:0001007)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Synophrys (HP:0000664)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Synophrys (HP:0000664)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Gene: MAB21L1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Gene: MAB21L1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)