TaoMedAI/RareMedData huggingface dataset:
Gene: KDM1A
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Ptosis (HP:0000508)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Exotropia (HP:0000577)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Exotropia (HP:0000577)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM4B
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Noncommunicating hydrocephalus (HP:0010953)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Ataxia (HP:0001251)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Clumsiness (HP:0002312)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Short palm (HP:0004279)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Synophrys (HP:0000664)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Sparse hair (HP:0008070)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Turricephaly (HP:0000262)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Narrow forehead (HP:0000341)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Micrognathia (HP:0000347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Round face (HP:0000311)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Short philtrum (HP:0000322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Macrotia (HP:0000400)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Infantile spasms (HP:0012469)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Anteverted nares (HP:0000463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Short foot (HP:0001773)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Bulbous nose (HP:0000414)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: KDM4B
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 (OMIM:619320)
Gene: MAST3
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Convulsive status epilepticus (HP:0032660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Focal motor status epilepticus (HP:0032663)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: MAST3
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Gene: ZNF292
Phenotype: Hypertonia (HP:0001276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Nystagmus (HP:0000639)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Synophrys (HP:0000664)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Growth delay (HP:0001510)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Cupped ear (HP:0000378)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Micrognathia (HP:0000347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Short chin (HP:0000331)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Short philtrum (HP:0000322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Pointed chin (HP:0000307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Anteverted nares (HP:0000463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Chronic constipation (HP:0012450)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Bulbous nose (HP:0000414)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: ZNF292
Phenotype: Prominent forehead (HP:0011220)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Gene: MYT1L
Phenotype: Mild fetal ventriculomegaly (HP:0010952)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Bruxism (HP:0003763)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Motor delay (HP:0001270)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Seizure (HP:0001250)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Polyphagia (HP:0002591)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Polyphagia (HP:0002591)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Abnormal pituitary stalk morphology (HP:0034977)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Micropenis (HP:0000054)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Polyembolokoilamania (HP:0032508)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Hypogonadism (HP:0000135)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Floppy infant (HP:0008947)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Renal cyst (HP:0000107)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Congenital muscular torticollis (HP:0005988)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)