TaoMedAI/RareMedData huggingface dataset:
Gene: YIF1B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Seizure (HP:0001250)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Spasticity (HP:0001257)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Scoliosis (HP:0002650)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Infantile onset (HP:0003593)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Congenital onset (HP:0003577)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Dyskinesia (HP:0100660)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Irritability (HP:0000737)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Microcephaly (HP:0000252)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: YIF1B
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Gene: MLIP
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Exercise-induced muscle stiffness (HP:0008967)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: MLIP
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Gene: LYRM7
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Lethargy (HP:0001254)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Coma (HP:0001259)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Tachypnea (HP:0002789)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Babinski sign (HP:0003487)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Anemia (HP:0001903)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Visual impairment (HP:0000505)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Exotropia (HP:0000577)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: LYRM7
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Gene: TBL1Y
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: DEAFNESS, Y-LINKED 2 (OMIM:400047)
Gene: TBL1Y
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, Y-LINKED 2 (OMIM:400047)
Gene: LRSAM1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Axonal degeneration/regeneration (HP:0003378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Fasciculations (HP:0002380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: LRSAM1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Gene: ESAM
Phenotype: Intracerebral periventricular calcifications (HP:0007229)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Narrow palate (HP:0000189)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Cerebral edema (HP:0002181)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Gliosis (HP:0002171)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Atelectasis (HP:0100750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Multifocal cerebral white matter abnormalities (HP:0007052)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Hydranencephaly (HP:0002324)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)
Gene: ESAM
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY (OMIM:620371)