TaoMedAI/RareMedData huggingface dataset:
Gene: HECTD4
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Macrotia (HP:0000400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Short neck (HP:0000470)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Proptosis (HP:0000520)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: GATC
Phenotype: Neonatal death (HP:0003811)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Decreased liver function (HP:0001410)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Anemia (HP:0001903)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Premature birth (HP:0001622)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: GATC
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (OMIM:618839)
Gene: CHAMP1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Incoordination (HP:0002311)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Overfriendliness (HP:0100025)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Diastasis recti (HP:0001540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Pointed chin (HP:0000307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: CHAMP1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Gene: SLC24A5
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VI (OMIM:113750)
Gene: SLC24A5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VI (OMIM:113750)
Gene: SLC24A5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VI (OMIM:113750)
Gene: SLC24A5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OCA6; Oculocutaneous albinism type 6 (ORPHA:370097)
Gene: SLC24A5
Phenotype: Fair hair (HP:0002286)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VI (OMIM:113750)
Gene: SLC24A5
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: OCA6; Oculocutaneous albinism type 6 (ORPHA:370097)
Gene: SLC24A5
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VI (OMIM:113750)
Gene: SLC24A5
Phenotype: Nystagmus (HP:0000639)
Associated disease: OCA6; Oculocutaneous albinism type 6 (ORPHA:370097)
Gene: SLC24A5
Phenotype: Photophobia (HP:0000613)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VI (OMIM:113750)
Gene: SLC24A5
Phenotype: Photophobia (HP:0000613)
Associated disease: OCA6; Oculocutaneous albinism type 6 (ORPHA:370097)
Gene: SLC24A5
Phenotype: Abnormal foveal morphology on macular OCT (HP:0030613)
Associated disease: OCA6; Oculocutaneous albinism type 6 (ORPHA:370097)
Gene: SLC24A5
Phenotype: Aplasia/Hypoplasia of the macula (HP:0008059)
Associated disease: OCA6; Oculocutaneous albinism type 6 (ORPHA:370097)
Gene: SLC24A5
Phenotype: Abnormal iris pigmentation (HP:0008034)
Associated disease: OCA6; Oculocutaneous albinism type 6 (ORPHA:370097)
Gene: SLC24A5
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VI (OMIM:113750)
Gene: SLC24A5
Phenotype: Visual impairment (HP:0000505)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE VI (OMIM:113750)
Gene: REC114
Phenotype: Repeated implantation failure (HP:0033712)
Associated disease: OOCYTE MATURATION DEFECT 10 (OMIM:619176)
Gene: REC114
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE MATURATION DEFECT 10 (OMIM:619176)
Gene: REC114
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE MATURATION DEFECT 10 (OMIM:619176)
Gene: REC114
Phenotype: Adult onset (HP:0003581)
Associated disease: OOCYTE MATURATION DEFECT 10 (OMIM:619176)
Gene: REC114
Phenotype: Formation of multiple pronuclei during fertilization (HP:4000008)
Associated disease: OOCYTE MATURATION DEFECT 10 (OMIM:619176)
Gene: REC114
Phenotype: Miscarriage (HP:0005268)
Associated disease: OOCYTE MATURATION DEFECT 10 (OMIM:619176)
Gene: TERB1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB1
Phenotype: Spermatogenesis maturation arrest (HP:0031038)
Associated disease: SPERMATOGENIC FAILURE 60 (OMIM:619646)
Gene: TERB1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 60 (OMIM:619646)
Gene: TERB1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 60 (OMIM:619646)
Gene: TERB1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB1
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 60 (OMIM:619646)
Gene: TERB1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 60 (OMIM:619646)
Gene: HID1
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Micropenis (HP:0000054)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Synophrys (HP:0000664)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: EEG with focal sharp slow waves (HP:0011195)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: HID1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM (OMIM:619983)
Gene: TSEN54
Phenotype: Extrapyramidal dyskinesia (HP:0007308)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Hypertonia (HP:0001276)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Hypertonia (HP:0001276)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Motor delay (HP:0001270)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 5 (OMIM:610204)
Gene: TSEN54
Phenotype: Seizure (HP:0001250)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Seizure (HP:0001250)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Spasticity (HP:0001257)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Death in childhood (HP:0003819)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Dystonia (HP:0001332)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 5 (OMIM:610204)
Gene: TSEN54
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Myoclonus (HP:0001336)
Associated disease: PCH4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; Pontocerebellar hypoplasia type 4 (ORPHA:166063)
Gene: TSEN54
Phenotype: Myoclonus (HP:0001336)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Gene: TSEN54
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Gene: TSEN54
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN54
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)