TaoMedAI/RareMedData huggingface dataset:
Gene: SLC25A24
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Muscle weakness (HP:0001324)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Scoliosis (HP:0002650)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Narrow mouth (HP:0000160)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: High, narrow palate (HP:0002705)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Midface retrusion (HP:0011800)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Pneumothorax (HP:0002107)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Congenital onset (HP:0003577)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Coarse hair (HP:0002208)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Coarse hair (HP:0002208)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Shagreen patch (HP:0009721)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Brittle hair (HP:0002299)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Dermal translucency (HP:0010648)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Protruding tongue (HP:0010808)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Congenital craniofacial dysostosis (HP:0008497)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Nystagmus (HP:0000639)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Upper eyelid coloboma (HP:0000636)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Oligodontia (HP:0000677)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Oligodontia (HP:0000677)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Microdontia (HP:0000691)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Synophrys (HP:0000664)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Short stature (HP:0004322)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Short stature (HP:0004322)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Short stature (HP:0004322)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Short nose (HP:0003196)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Platyspondyly (HP:0000926)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Absent distal phalanges (HP:0005807)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Sparse hair (HP:0008070)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Aplastic/hypoplastic lacrimal glands (HP:0008038)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Epicanthus (HP:0000286)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Retrognathia (HP:0000278)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Turricephaly (HP:0000262)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Long eyelashes in irregular rows (HP:0007740)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Microcephaly (HP:0000252)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Redundant skin (HP:0001582)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Redundant skin (HP:0001582)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Brachycephaly (HP:0000248)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Death in infancy (HP:0001522)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Failure to thrive (HP:0001508)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Small for gestational age (HP:0001518)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Hypoplasia of the abdominal wall musculature (HP:0005247)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Low-set ears (HP:0000369)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)