TaoMedAI/RareMedData huggingface dataset:
Gene: USP7
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Short stature (HP:0004322)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Autistic behavior (HP:0000729)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Kyphosis (HP:0002808)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Large fontanelles (HP:0000239)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Overweight (HP:0025502)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Speech apraxia (HP:0011098)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Low-set ears (HP:0000369)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Strabismus (HP:0000486)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Strabismus (HP:0000486)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Perseverative thought (HP:0030223)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Short foot (HP:0001773)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Hallux valgus (HP:0001822)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Esotropia (HP:0000565)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Myopia (HP:0000545)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: RAB7A
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Autoamputation (HP:0001218)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Axonal degeneration/regeneration (HP:0003378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Peripheral axonal atrophy (HP:0003384)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Fasciculations (HP:0002380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Pes planus (HP:0001763)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Foot osteomyelitis (HP:0001886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: RAB7A
Phenotype: Autoamputation of foot (HP:0001868)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Gene: ALDH5A1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Elevated urinary 3,4-Dihydroxybutyric acid level (HP:6000608)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Motor delay (HP:0001270)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Seizure (HP:0001250)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SSADH deficiency; 4-hydroxybutyric aciduria; Succinic semialdehyde dehydrogenase deficiency; Gamma-hydroxybutyric aciduria (ORPHA:22)
Gene: ALDH5A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Ataxia (HP:0001251)
Associated disease: SSADH deficiency; 4-hydroxybutyric aciduria; Succinic semialdehyde dehydrogenase deficiency; Gamma-hydroxybutyric aciduria (ORPHA:22)
Gene: ALDH5A1
Phenotype: Ataxia (HP:0001251)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SSADH deficiency; 4-hydroxybutyric aciduria; Succinic semialdehyde dehydrogenase deficiency; Gamma-hydroxybutyric aciduria (ORPHA:22)
Gene: ALDH5A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SSADH deficiency; 4-hydroxybutyric aciduria; Succinic semialdehyde dehydrogenase deficiency; Gamma-hydroxybutyric aciduria (ORPHA:22)
Gene: ALDH5A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Increased level of gamma-aminobutyric acid in urine (HP:0500253)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Elevated circulating gamma-aminobutyric acid concentration (HP:0410053)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Elevated urinary 4-hydroxybutyric acid (HP:0032528)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Decreased tissue succinic semialdehyde dehydrogenase activity (HP:0032530)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Elevated CSF gamma-aminobutyric acid concentration (HP:0032531)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Elevated CSF 4-hydroxybutyric acid concentration (HP:0032532)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SSADH deficiency; 4-hydroxybutyric aciduria; Succinic semialdehyde dehydrogenase deficiency; Gamma-hydroxybutyric aciduria (ORPHA:22)
Gene: ALDH5A1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: SSADH deficiency; 4-hydroxybutyric aciduria; Succinic semialdehyde dehydrogenase deficiency; Gamma-hydroxybutyric aciduria (ORPHA:22)
Gene: ALDH5A1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: SSADH deficiency; 4-hydroxybutyric aciduria; Succinic semialdehyde dehydrogenase deficiency; Gamma-hydroxybutyric aciduria (ORPHA:22)
Gene: ALDH5A1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: SSADH deficiency; 4-hydroxybutyric aciduria; Succinic semialdehyde dehydrogenase deficiency; Gamma-hydroxybutyric aciduria (ORPHA:22)
Gene: ALDH5A1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Hallucinations (HP:0000738)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Anxiety (HP:0000739)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Autism (HP:0000717)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Psychosis (HP:0000709)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SSADH deficiency; 4-hydroxybutyric aciduria; Succinic semialdehyde dehydrogenase deficiency; Gamma-hydroxybutyric aciduria (ORPHA:22)
Gene: ALDH5A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Elevated circulating 4-hydroxybutyric acid concentration (HP:6000991)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ALDH5A1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:271980)
Gene: ABHD16A
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Absent speech (HP:0001344)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: ABHD16A
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Gene: SLC39A7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: SLC39A7
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: SLC39A7
Phenotype: Infantile onset (HP:0003593)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: SLC39A7
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: SLC39A7
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: SLC39A7
Phenotype: Childhood onset (HP:0011463)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: SLC39A7
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: SLC39A7
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: SLC39A7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: SLC39A7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: SLC39A7
Phenotype: Absent circulating B cells (HP:0030252)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: SLC39A7
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Gene: PLA2G7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY (OMIM:614278)
Gene: PLA2G7
Phenotype: Platelet-activating factor acetylhydrolase deficiency (HP:0040175)
Associated disease: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY (OMIM:614278)
Gene: PLA2G7
Phenotype: Increased level of platelet-activating factor (HP:0040178)
Associated disease: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY (OMIM:614278)
Gene: EPM2A
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Confusion (HP:0001289)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Gene: EPM2A
Phenotype: Seizure (HP:0001250)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Ataxia (HP:0001251)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Spasticity (HP:0001257)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: EPM2A
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)