TaoMedAI/RareMedData huggingface dataset:
Gene: CAMSAP1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Death in childhood (HP:0003819)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Pachygyria (HP:0001302)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Femoral hernia (HP:0100541)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: High palate (HP:0000218)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Astigmatism (HP:0000483)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Enlarged posterior fossa (HP:0005445)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: FREM1
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: Marles syndrome; Oculotrichoanal syndrome; Manitoba oculotrichoanal syndrome; Marles-Greenberg-Persaud syndrome; MOTA syndrome (ORPHA:2717)
Gene: FREM1
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TRIGONOCEPHALY 2 (OMIM:614485)
Gene: FREM1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TRIGONOCEPHALY 2 (OMIM:614485)
Gene: FREM1
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: BNAR syndrome; Bifid nose with or without anorectal and renal anomalies (ORPHA:217266)
Gene: FREM1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Anal stenosis (HP:0002025)
Associated disease: Marles syndrome; Oculotrichoanal syndrome; Manitoba oculotrichoanal syndrome; Marles-Greenberg-Persaud syndrome; MOTA syndrome (ORPHA:2717)
Gene: FREM1
Phenotype: Anal stenosis (HP:0002025)
Associated disease: BNAR syndrome; Bifid nose with or without anorectal and renal anomalies (ORPHA:217266)
Gene: FREM1
Phenotype: Anal stenosis (HP:0002025)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Bifid nose (HP:0011803)
Associated disease: BNAR syndrome; Bifid nose with or without anorectal and renal anomalies (ORPHA:217266)
Gene: FREM1
Phenotype: Bifid nose (HP:0011803)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Corneopalpebral synechiae (HP:6000101)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Abnormality of the hairline (HP:0009553)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Marles syndrome; Oculotrichoanal syndrome; Manitoba oculotrichoanal syndrome; Marles-Greenberg-Persaud syndrome; MOTA syndrome (ORPHA:2717)
Gene: FREM1
Phenotype: Papilledema (HP:0001085)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Upper eyelid coloboma (HP:0000636)
Associated disease: Marles syndrome; Oculotrichoanal syndrome; Manitoba oculotrichoanal syndrome; Marles-Greenberg-Persaud syndrome; MOTA syndrome (ORPHA:2717)
Gene: FREM1
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: TRIGONOCEPHALY 2 (OMIM:614485)
Gene: FREM1
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Synophrys (HP:0000664)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Abnormal fifth toe morphology (HP:0010322)
Associated disease: BNAR syndrome; Bifid nose with or without anorectal and renal anomalies (ORPHA:217266)
Gene: FREM1
Phenotype: Ebstein anomaly of the tricuspid valve (HP:0010316)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Abnormal respiratory system morphology (HP:0012252)
Associated disease: BNAR syndrome; Bifid nose with or without anorectal and renal anomalies (ORPHA:217266)
Gene: FREM1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: TRIGONOCEPHALY 2 (OMIM:614485)
Gene: FREM1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: TRIGONOCEPHALY 2 (OMIM:614485)
Gene: FREM1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: BNAR syndrome; Bifid nose with or without anorectal and renal anomalies (ORPHA:217266)
Gene: FREM1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Marles syndrome; Oculotrichoanal syndrome; Manitoba oculotrichoanal syndrome; Marles-Greenberg-Persaud syndrome; MOTA syndrome (ORPHA:2717)
Gene: FREM1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Short lingual frenulum (HP:0000200)
Associated disease: BNAR syndrome; Bifid nose with or without anorectal and renal anomalies (ORPHA:217266)
Gene: FREM1
Phenotype: Short lingual frenulum (HP:0000200)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Omphalocele (HP:0001539)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Low-set ears (HP:0000369)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Marles syndrome; Oculotrichoanal syndrome; Manitoba oculotrichoanal syndrome; Marles-Greenberg-Persaud syndrome; MOTA syndrome (ORPHA:2717)
Gene: FREM1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TRIGONOCEPHALY 2 (OMIM:614485)
Gene: FREM1
Phenotype: Short philtrum (HP:0000322)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: TRIGONOCEPHALY 2 (OMIM:614485)
Gene: FREM1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: TRIGONOCEPHALY 2 (OMIM:614485)
Gene: FREM1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: Marles syndrome; Oculotrichoanal syndrome; Manitoba oculotrichoanal syndrome; Marles-Greenberg-Persaud syndrome; MOTA syndrome (ORPHA:2717)
Gene: FREM1
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FREM1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: TRIGONOCEPHALY 2 (OMIM:614485)
Gene: FREM1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Marles syndrome; Oculotrichoanal syndrome; Manitoba oculotrichoanal syndrome; Marles-Greenberg-Persaud syndrome; MOTA syndrome (ORPHA:2717)
Gene: FREM1
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: Marles syndrome; Oculotrichoanal syndrome; Manitoba oculotrichoanal syndrome; Marles-Greenberg-Persaud syndrome; MOTA syndrome (ORPHA:2717)
Gene: FREM1
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: FREM1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Gene: FREM1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Marles syndrome; Oculotrichoanal syndrome; Manitoba oculotrichoanal syndrome; Marles-Greenberg-Persaud syndrome; MOTA syndrome (ORPHA:2717)
Gene: FREM1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Gene: SHOC1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SHOC1
Phenotype: Spermatocyte maturation arrest (HP:0031039)
Associated disease: SPERMATOGENIC FAILURE 75 (OMIM:619949)
Gene: SHOC1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SHOC1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SHOC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 75 (OMIM:619949)
Gene: SHOC1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SHOC1
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: SPERMATOGENIC FAILURE 75 (OMIM:619949)
Gene: SHOC1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 75 (OMIM:619949)
Gene: SHOC1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SHOC1
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SHOC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 75 (OMIM:619949)
Gene: SHOC1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SHOC1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 75 (OMIM:619949)
Gene: CFAP58
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 49 (OMIM:619144)
Gene: CFAP58
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 49 (OMIM:619144)
Gene: CFAP58
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 49 (OMIM:619144)
Gene: CFAP58
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 49 (OMIM:619144)
Gene: CFAP58
Phenotype: Adult onset (HP:0003581)
Associated disease: SPERMATOGENIC FAILURE 49 (OMIM:619144)
Gene: CFAP58
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 49 (OMIM:619144)
Gene: CFAP58
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 49 (OMIM:619144)
Gene: TMTC3
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Seizure (HP:0001250)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Absent speech (HP:0001344)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Infantile onset (HP:0003593)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Hernia (HP:0100790)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Agyria (HP:0031882)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Retrocerebellar cyst (HP:0006951)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Thin skin (HP:0000963)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Microcephaly (HP:0000252)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Cataract (HP:0000518)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: TMTC3
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: TMTC3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LISSENCEPHALY 8 (OMIM:617255)
Gene: STRC
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: STRC
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: STRC
Phenotype: Azoospermia (HP:0000027)
Associated disease: Deafness-infertility syndrome; DIS; Hearing loss-infertility syndrome (ORPHA:94064)
Gene: STRC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: STRC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 16 (OMIM:603720)
Gene: STRC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: STRC
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)