TaoMedAI/RareMedData huggingface dataset:
Gene: SLC5A6
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Interosseus muscle atrophy (HP:0007181)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: SLC5A6
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Gene: SLC5A6
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Gene: MCM3AP
Phenotype: Split hand (HP:0001171)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Motor delay (HP:0001270)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Hypotonia (HP:0001252)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Ataxia (HP:0001251)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Scoliosis (HP:0002650)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: High, narrow palate (HP:0002705)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Congenital onset (HP:0003577)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Unsteady gait (HP:0002317)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Short stature (HP:0004322)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Childhood onset (HP:0011463)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Kyphosis (HP:0002808)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Obesity (HP:0001513)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Strabismus (HP:0000486)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: MCM3AP
Phenotype: Pes cavus (HP:0001761)
Associated disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Gene: EIF2B4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Unsteady gait (HP:0002317)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B4
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 (OMIM:620314)
Gene: EIF2B3
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 (OMIM:620313)
Gene: EIF2B3
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 (OMIM:620313)
Gene: EIF2B3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 (OMIM:620313)
Gene: EIF2B3
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 (OMIM:620313)
Gene: EIF2B3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 (OMIM:620313)
Gene: EIF2B3
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 (OMIM:620313)
Gene: EIF2B3
Phenotype: Young adult onset (HP:0011462)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 (OMIM:620313)
Gene: EIF2B3
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 (OMIM:620313)
Gene: EIF2B3
Phenotype: Hemianopia (HP:0012377)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 (OMIM:620313)
Gene: EIF2B2
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Gene: EIF2B2
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Gene: EIF2B2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Gene: EIF2B2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Gene: EIF2B2
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Gene: EIF2B2
Phenotype: Memory impairment (HP:0002354)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Gene: EIF2B2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Gene: EIF2B2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Gene: EIF2B2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Gene: EIF2B2
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Gene: EIF2B2
Phenotype: Cataract (HP:0000518)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 (OMIM:620312)
Gene: EIF2B5
Phenotype: Coma (HP:0001259)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Gene: EIF2B5
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Gene: EIF2B5
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Gene: EIF2B5
Phenotype: Megalencephaly (HP:0001355)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Gene: EIF2B5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Gene: EIF2B5
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Gene: EIF2B5
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Gene: EIF2B5
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Gene: EIF2B5
Phenotype: Decreased CSF asialotransferrin to transferrin ratio (HP:6000447)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Gene: EIF2B5
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Gene: EIF2B5
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 (OMIM:620315)
Gene: MTMR2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Irregular myelin loops (HP:0007208)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Facial palsy (HP:0010628)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Myelin outfoldings (HP:0004336)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: MTMR2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Gene: AP1S2
Phenotype: Fetal distress (HP:0025116)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Poor speech (HP:0002465)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Seizure (HP:0001250)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Hypotonia (HP:0001252)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Spasticity (HP:0001257)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Pettigrew Syndrome; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (ORPHA:1568)
Gene: AP1S2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Pettigrew Syndrome; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (ORPHA:1568)
Gene: AP1S2
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Pettigrew Syndrome; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (ORPHA:1568)
Gene: AP1S2
Phenotype: Absent speech (HP:0001344)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Scoliosis (HP:0002650)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Open mouth (HP:0000194)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Wide mouth (HP:0000154)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Pettigrew Syndrome; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (ORPHA:1568)
Gene: AP1S2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pettigrew Syndrome; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (ORPHA:1568)
Gene: AP1S2
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Infantile onset (HP:0003593)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Childhood onset (HP:0011463)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)