TaoMedAI/RareMedData huggingface dataset:
Gene: OTUD6B
Phenotype: Tapered finger (HP:0001182)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Hypertonia (HP:0001276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Hypertonia (HP:0001276)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Seizure (HP:0001250)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Ataxia (HP:0001251)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Spasticity (HP:0001257)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Aplasia/Hypoplasia of the external ear (HP:0008772)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Inability to walk (HP:0002540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Inability to walk (HP:0002540)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Flexion contracture (HP:0001371)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Absent speech (HP:0001344)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Scoliosis (HP:0002650)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Broad thumb (HP:0011304)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Broad thumb (HP:0011304)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Decreased body weight (HP:0004325)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Short stature (HP:0004322)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Sacral dimple (HP:0000960)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Retrognathia (HP:0000278)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Long face (HP:0000276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Long face (HP:0000276)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Brachycephaly (HP:0000248)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: High palate (HP:0000218)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Low-set ears (HP:0000369)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Long philtrum (HP:0000343)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Macrotia (HP:0000400)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Macrotia (HP:0000400)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Chronic constipation (HP:0012450)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Short neck (HP:0000470)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Short neck (HP:0000470)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Wide nose (HP:0000445)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Protruding ear (HP:0000411)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Flat occiput (HP:0005469)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Flat occiput (HP:0005469)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Overlapping toe (HP:0001845)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: OTUD6B
Phenotype: Long eyelashes (HP:0000527)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
Gene: OTUD6B
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
Gene: PPIL1
Phenotype: Persistently decreased total neutrophil count (HP:0410252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Hypertonia (HP:0001276)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Motor delay (HP:0001270)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Dystonia (HP:0001332)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Absent speech (HP:0001344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Death in infancy (HP:0001522)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: PPIL1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 (OMIM:619301)
Gene: MRPS23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 (OMIM:618952)
Gene: MRPS23
Phenotype: Decreased liver function (HP:0001410)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 (OMIM:618952)
Gene: MRPS23
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 (OMIM:618952)
Gene: MRPS23
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 (OMIM:618952)
Gene: PTRH2
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Aplasia/Hypoplasia of the pancreas (HP:0100800)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Long fingers (HP:0100807)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Long fingers (HP:0100807)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Motor delay (HP:0001270)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Motor delay (HP:0001270)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Seizure (HP:0001250)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)