TaoMedAI/RareMedData huggingface dataset:
Gene: GALT
Phenotype: Specific learning disability (HP:0001328)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Increased level of galactitol in red blood cells (HP:0410064)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Increased level of galactitol in urine (HP:0410062)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Increased level of galactonate in red blood cells (HP:0410063)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Increased level of galactitol in plasma (HP:0410061)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Decreased liver function (HP:0001410)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Diarrhea (HP:0002014)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Diarrhea (HP:0002014)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Vomiting (HP:0002013)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Vomiting (HP:0002013)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Gait imbalance (HP:0002141)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Postural tremor (HP:0002174)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Action tremor (HP:0002345)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Bone fracture (HP:0020110)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Neonatal onset (HP:0003623)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Incoordination (HP:0002311)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Clumsiness (HP:0002312)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Deficit in grammar (HP:0006977)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Anxiety (HP:0000739)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Depression (HP:0000716)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity (HP:4000208)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Delayed puberty (HP:0000823)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Male infertility (HP:0003251)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Jaundice (HP:0000952)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Jaundice (HP:0000952)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Osteoporosis (HP:0000939)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Ascites (HP:0001541)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Speech apraxia (HP:0011098)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Abnormal erythrocyte enzyme concentration or activity (HP:0030272)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Cataract (HP:0000518)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Cataract (HP:0000518)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Albuminuria (HP:0012592)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GALT
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Food intolerance (HP:0012537)
Associated disease: GALT deficiency; Classic galactosemia; Galactosemia type 1; Galactose-1-phosphate uridyltransferase deficiency (ORPHA:79239)
Gene: GALT
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: GALACTOSEMIA I (OMIM:230400)
Gene: GAMT
Phenotype: Poor speech (HP:0002465)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Abnormal head movements (HP:0002457)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Hypertonia (HP:0001276)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Seizure (HP:0001250)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Hypotonia (HP:0001252)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Hypotonia (HP:0001252)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Ataxia (HP:0001251)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Reduced tissue guanidinoacetate methyltransferase activity (HP:6000722)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Decreased urinary creatine level (HP:6000748)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Dystonia (HP:0001332)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Absent speech (HP:0001344)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Tremor (HP:0001337)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Myoclonus (HP:0001336)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Floppy infant (HP:0008947)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Decreased serum creatinine (HP:0012101)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Rigidity (HP:0002063)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Chorea (HP:0002072)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Paraparesis (HP:0002385)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Developmental regression (HP:0002376)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Elevated brain guanidinoacetate level by MRS (HP:6000484)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Atonic seizure (HP:0010819)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Reduced brain creatine level by MRS (HP:0025051)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Progressive extrapyramidal movement disorder (HP:0007153)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Progressive extrapyramidal movement disorder (HP:0007153)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Athetosis (HP:0002305)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Hyperactivity (HP:0000752)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: GAMT
Phenotype: Autism (HP:0000717)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Atypical behavior (HP:0000708)
Associated disease: GAMT deficiency; Guanidinoacetate methyltransferase deficiency (ORPHA:382)
Gene: GAMT
Phenotype: Elevated circulating guanidinoacetic acid concentration (HP:0034321)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Gene: LRRC32
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Cleft palate (HP:0000175)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Sleep apnea (HP:0010535)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Micrognathia (HP:0000347)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Short philtrum (HP:0000322)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Strabismus (HP:0000486)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: LRRC32
Phenotype: Myopia (HP:0000545)
Associated disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Gene: GARS1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Motor delay (HP:0001270)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)