TaoMedAI/RareMedData huggingface dataset:
Gene: GRB10
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Prominent forehead (HP:0011220)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Oral aversion (HP:0012523)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRIA1
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Precocious puberty in females (HP:0010465)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Exodeviation (HP:0020049)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Posterior plagiocephaly (HP:0011327)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Motor tics (HP:0100034)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Astigmatism (HP:0000483)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Gene: GRIA1
Phenotype: Telecanthus (HP:0000506)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Gene: GRIA2
Phenotype: Clonic seizure (HP:0020221)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Gene: GRIA3
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Hypertonia (HP:0001276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Motor delay (HP:0001270)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Spasticity (HP:0001257)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Micropenis (HP:0000054)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Myoclonus (HP:0001336)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Myoclonus (HP:0001336)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Scoliosis (HP:0002650)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Narrow palate (HP:0000189)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Short upper lip (HP:0000188)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Open mouth (HP:0000194)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Babinski sign (HP:0003487)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Status epilepticus (HP:0002133)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Limb tremor (HP:0200085)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Severe expressive language delay (HP:0006863)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Retrocerebellar cyst (HP:0006951)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Self-mutilation (HP:0000742)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Autism (HP:0000717)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Malar flattening (HP:0000272)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Kyphosis (HP:0002808)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Slender build (HP:0001533)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Slender build (HP:0001533)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Short philtrum (HP:0000322)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Macrotia (HP:0000400)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE (OMIM:300699)
Gene: GRIA3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Abnormality of muscle size (HP:0030236)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Pes planus (HP:0001763)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA3
Phenotype: Ptosis (HP:0000508)
Associated disease: X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
Gene: GRIA4
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)