TaoMedAI/RareMedData huggingface dataset:
Gene: ANTXR1
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Amenorrhea (HP:0000141)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Palpebral edema (HP:0100540)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Palpebral thickening (HP:0030939)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Skin tags (HP:0010609)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HEMANGIOMA, CAPILLARY INFANTILE (OMIM:602089)
Gene: ANTXR1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Early balding (HP:0002234)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Facial palsy (HP:0010628)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Severe short stature (HP:0003510)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Hemangioma (HP:0001028)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Prominent scalp veins (HP:0001043)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Dysmenorrhea (HP:0100607)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Photophobia (HP:0000613)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Short stature (HP:0004322)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Eruption failure (HP:0000706)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Short nose (HP:0003196)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Sparse hair (HP:0008070)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Epicanthus (HP:0000286)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Alopecia (HP:0001596)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Alopecia (HP:0001596)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Small face (HP:0000274)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Redundant skin (HP:0001582)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Asymmetry of the thorax (HP:0001555)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Growth delay (HP:0001510)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Growth delay (HP:0001510)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Low-set ears (HP:0000369)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Broad forehead (HP:0000337)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Broad forehead (HP:0000337)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: High forehead (HP:0000348)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: HEMANGIOMA, CAPILLARY INFANTILE (OMIM:602089)
Gene: ANTXR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Strabismus (HP:0000486)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Megalocornea (HP:0000485)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Protruding ear (HP:0000411)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Visual impairment (HP:0000505)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Glaucoma (HP:0000501)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Glaucoma (HP:0000501)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Keratoconus (HP:0000563)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Keratoconus (HP:0000563)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: ANTXR1
Phenotype: Esotropia (HP:0000565)
Associated disease: GAPO SYNDROME (OMIM:230740)
Gene: ANTXR1
Phenotype: Myopia (HP:0000545)
Associated disease: GAPO syndrome; Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome (ORPHA:2067)
Gene: POLR1B
Phenotype: Microtia (HP:0008551)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Small scrotum (HP:0000046)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Cleft palate (HP:0000175)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Cleft palate (HP:0000175)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Wide mouth (HP:0000154)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Tessier cleft (HP:0002006)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Encephalocele (HP:0002084)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Preauricular hair displacement (HP:0009554)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Preauricular hair displacement (HP:0009554)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Aphasia (HP:0002381)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Open bite (HP:0010807)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Branchial fistula (HP:0009795)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Lower eyelid coloboma (HP:0000652)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Abnormal lacrimal duct morphology (HP:0011481)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Abnormality of the adrenal glands (HP:0000834)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Retrognathia (HP:0000278)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Malar flattening (HP:0000272)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Malar flattening (HP:0000272)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Microcephaly (HP:0000252)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: High palate (HP:0000218)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)