TaoMedAI/RareMedData huggingface dataset:
Gene: CHMP2B
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Depression (HP:0000716)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Restlessness (HP:0000711)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Restlessness (HP:0000711)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Restlessness (HP:0000711)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Hyperorality (HP:0000710)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Hyperorality (HP:0000710)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Dementia (HP:0000726)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: CHMP2B
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Psychosis (HP:0000709)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Anomic aphasia (HP:0030784)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: CHMP2B
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Senile plaques (HP:0100256)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Emotional dearth (HP:0030213)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Collectionism (HP:0030212)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Visual agnosia (HP:0030222)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: CHMP2B
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: CHMP2B
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Spoken word recognition deficit (HP:0030391)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DNAH1
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Right aortic arch (HP:0012020)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 18 (OMIM:617576)
Gene: DNAH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 18 (OMIM:617576)
Gene: DNAH1
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 18 (OMIM:617576)
Gene: DNAH1
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 18 (OMIM:617576)
Gene: DNAH1
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Female infertility (HP:0008222)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 18 (OMIM:617576)
Gene: DNAH1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 18 (OMIM:617576)
Gene: DNAH1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Goiter (HP:0000853)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Wheezing (HP:0030828)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 18 (OMIM:617576)
Gene: DNAH1
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Rhinorrhea (HP:0031417)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 18 (OMIM:617576)
Gene: DNAH1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Gene: DNAH1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAH1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: C2CD3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Open operculum (HP:0100954)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Hypotonia (HP:0001252)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Aplasia of the epiglottis (HP:0008753)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Aplasia of the epiglottis (HP:0008753)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Epispadias (HP:0000039)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Epispadias (HP:0000039)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Micropenis (HP:0000054)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Absent speech (HP:0001344)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Cleft palate (HP:0000175)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Cleft palate (HP:0000175)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Cleft lip (HP:0410030)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Sleep apnea (HP:0010535)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Congenital onset (HP:0003577)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Retinitis (HP:0032118)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Duplication of phalanx of hallux (HP:0010066)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Deviation of the hallux (HP:0010051)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Broad hallux (HP:0010055)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)