TaoMedAI/RareMedData huggingface dataset:
Gene: TMCO1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Cleft palate (HP:0000175)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Wide mouth (HP:0000154)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Microdontia of primary teeth (HP:0006347)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Intention tremor (HP:0002080)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Coarse hair (HP:0002208)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Hernia (HP:0100790)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Poliosis (HP:0002290)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Synophrys (HP:0000664)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Synophrys (HP:0000664)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Short stature (HP:0004322)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Short stature (HP:0004322)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Anxiety (HP:0000739)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Narrow chest (HP:0000774)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Short nose (HP:0003196)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Short nose (HP:0003196)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Rib fusion (HP:0000902)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Rib fusion (HP:0000902)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Bifid ribs (HP:0000892)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Bifid ribs (HP:0000892)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Epicanthus (HP:0000286)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: High palate (HP:0000218)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Flat face (HP:0012368)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Strabismus (HP:0000486)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Strabismus (HP:0000486)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Short neck (HP:0000470)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Short neck (HP:0000470)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Pes planus (HP:0001763)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Wide nose (HP:0000445)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Wide nose (HP:0000445)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Ptosis (HP:0000508)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: ADAMTSL4
Phenotype: Persistent pupillary membrane (HP:0009917)
Associated disease: ECTOPIA LENTIS ET PUPILLAE (OMIM:225200)
Gene: ADAMTSL4
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: ECTOPIA LENTIS ET PUPILLAE (OMIM:225200)
Gene: ADAMTSL4
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: ADAMTSL4
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: ADAMTSL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTOPIA LENTIS ET PUPILLAE (OMIM:225200)
Gene: ADAMTSL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
Gene: ADAMTSL4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: ADAMTSL4
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: ECTOPIA LENTIS ET PUPILLAE (OMIM:225200)
Gene: ADAMTSL4
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: ADAMTSL4
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
Gene: ADAMTSL4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: ADAMTSL4
Phenotype: Amblyopia (HP:0000646)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: ADAMTSL4
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: ECTOPIA LENTIS ET PUPILLAE (OMIM:225200)
Gene: ADAMTSL4
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: ADAMTSL4
Phenotype: Malar flattening (HP:0000272)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: ADAMTSL4
Phenotype: High myopia (HP:0011003)
Associated disease: ECTOPIA LENTIS ET PUPILLAE (OMIM:225200)
Gene: ADAMTSL4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: ADAMTSL4
Phenotype: Cataract (HP:0000518)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: ADAMTSL4
Phenotype: Cataract (HP:0000518)
Associated disease: ECTOPIA LENTIS ET PUPILLAE (OMIM:225200)
Gene: ADAMTSL4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: ADAMTSL4
Phenotype: Retinal detachment (HP:0000541)
Associated disease: ECTOPIA LENTIS ET PUPILLAE (OMIM:225200)
Gene: PUS7
Phenotype: Bruxism (HP:0003763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Infra-orbital crease (HP:0100876)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Tremor (HP:0001337)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Open mouth (HP:0000194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Muscle spasm (HP:0003394)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Prominent glabella (HP:0002057)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Esodeviation (HP:0020045)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Dental crowding (HP:0000678)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Hypodontia (HP:0000668)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Decreased body weight (HP:0004325)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Hyperactivity (HP:0000752)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Short attention span (HP:0000736)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Gene: PUS7
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)