TaoMedAI/RareMedData huggingface dataset:
Gene: TP53RK
Phenotype: Premature birth (HP:0001622)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Macrotia (HP:0000400)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TP53RK
Phenotype: Protruding ear (HP:0000411)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: TP53RK
Phenotype: Visual impairment (HP:0000505)
Associated disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Gene: NACC1
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Seizure (HP:0001250)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Spasticity (HP:0001257)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Apneic episodes in infancy (HP:0005949)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Irritability (HP:0000737)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Irritability (HP:0000737)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Joint contracture (HP:0034392)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
Associated disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (ORPHA:500545)
Gene: NACC1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: NACC1
Phenotype: Cataract (HP:0000518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
Gene: ADAT3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Seizure (HP:0001250)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Spasticity (HP:0001257)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Micropenis (HP:0000054)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Hypospadias (HP:0000047)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Wide mouth (HP:0000154)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Floppy infant (HP:0008947)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Postural instability (HP:0002172)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Impulsivity (HP:0100710)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Diffuse demyelination of the cerebral white matter (HP:0007162)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Synophrys (HP:0000664)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Short stature (HP:0004322)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Short nose (HP:0003196)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Long face (HP:0000276)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: High palate (HP:0000218)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Low-set ears (HP:0000369)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: High forehead (HP:0000348)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: High forehead (HP:0000348)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Macrotia (HP:0000400)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Strabismus (HP:0000486)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Short neck (HP:0000470)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Prominent nose (HP:0000448)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Telecanthus (HP:0000506)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Telecanthus (HP:0000506)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: ADAT3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Gene: ADAT3
Phenotype: Esotropia (HP:0000565)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Gene: CHST14
Phenotype: Tapered finger (HP:0001182)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: CHST14
Phenotype: Adducted thumb (HP:0001181)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)