TaoMedAI/RareMedData huggingface dataset:
Gene: CLPB
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Seizure (HP:0001250)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Seizure (HP:0001250)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT (OMIM:619813)
Gene: CLPB
Phenotype: Seizure (HP:0001250)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Hypotonia (HP:0001252)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Hypotonia (HP:0001252)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Hypotonia (HP:0001252)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Ataxia (HP:0001251)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Dysarthria (HP:0001260)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT (OMIM:619813)
Gene: CLPB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Spasticity (HP:0001257)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Spasticity (HP:0001257)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Bone marrow maturation arrest (HP:0033606)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Dystonia (HP:0001332)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Absent speech (HP:0001344)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Tremor (HP:0001337)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT (OMIM:619813)
Gene: CLPB
Phenotype: Myoclonus (HP:0001336)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Myoclonus (HP:0001336)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Neonatal omphalitis (HP:0032435)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Rhizomelia (HP:0008905)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Pharyngitis (HP:0025439)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Renal cyst (HP:0000107)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Recurrent infections (HP:0002719)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Diarrhea (HP:0002014)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Respiratory distress (HP:0002098)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Pneumonia (HP:0002090)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Opisthotonus (HP:0002179)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Opisthotonus (HP:0002179)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Brachioradialis areflexia (HP:0033229)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Infantile onset (HP:0003593)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT (OMIM:619813)
Gene: CLPB
Phenotype: Infantile onset (HP:0003593)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT (OMIM:619813)
Gene: CLPB
Phenotype: Congenital onset (HP:0003577)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT (OMIM:619813)
Gene: CLPB
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Anisopoikilocytosis (HP:0004823)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Hemangioma (HP:0001028)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Developmental regression (HP:0002376)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Developmental regression (HP:0002376)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Progressive (HP:0003676)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Cellulitis (HP:0100658)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Tube feeding (HP:0033454)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Progressive extrapyramidal movement disorder (HP:0007153)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Neonatal onset (HP:0003623)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Nystagmus (HP:0000639)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Nystagmus (HP:0000639)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Dehydration (HP:0001944)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Fever (HP:0001945)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Leukemia (HP:0001909)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Anemia (HP:0001903)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Periodontitis (HP:0000704)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT (OMIM:619813)
Gene: CLPB
Phenotype: Fetal onset (HP:0011461)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Osteopenia (HP:0000938)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Microcephaly (HP:0000252)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Gingivitis (HP:0000230)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Trismus (HP:0000211)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Growth delay (HP:0001510)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Growth delay (HP:0001510)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Rhinitis (HP:0012384)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Micrognathia (HP:0000347)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Bulbous nose (HP:0000414)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT (OMIM:619813)
Gene: CLPB
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Cataract (HP:0000518)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Cataract (HP:0000518)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Cataract (HP:0000518)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT (OMIM:619813)
Gene: CLPB
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)