TaoMedAI/RareMedData huggingface dataset:
Gene: SLC25A22
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC25A22
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC25A22
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC25A22
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC25A22
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC25A22
Phenotype: Delayed myelination (HP:0012448)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3 (OMIM:609304)
Gene: SLC25A22
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC25A22
Phenotype: Brain atrophy (HP:0012444)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3 (OMIM:609304)
Gene: SLC25A22
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3 (OMIM:609304)
Gene: SLC25A22
Phenotype: Visual impairment (HP:0000505)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC25A22
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SNIP1
Phenotype: Tapered finger (HP:0001182)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Seizure (HP:0001250)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Macroglossia (HP:0000158)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Wide mouth (HP:0000154)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Short palm (HP:0004279)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Broad thumb (HP:0011304)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Broad jaw (HP:0012802)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: High palate (HP:0000218)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Strabismus (HP:0000486)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: SNIP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Gene: ZNF750
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (OMIM:610227)
Gene: ZNF750
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (OMIM:610227)
Gene: ZNF750
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (OMIM:610227)
Gene: ZNF750
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (OMIM:610227)
Gene: ZNF750
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (OMIM:610227)
Gene: ZNF668
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Broad thumb (HP:0011304)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Osteopenia (HP:0000938)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Small for gestational age (HP:0001518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Macrotia (HP:0000400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Prominent nose (HP:0000448)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Long hallux (HP:0001847)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Hallux valgus (HP:0001822)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: ZNF668
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Gene: TXNDC15
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Syndactyly (HP:0001159)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Encephalocele (HP:0002084)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Congenital onset (HP:0003577)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Anencephaly (HP:0002323)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Late first trimester onset (HP:0034199)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Second trimester onset (HP:0034198)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Cyanosis (HP:0000961)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Retrognathia (HP:0000278)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Full cheeks (HP:0000293)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Low-set ears (HP:0000369)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Micrognathia (HP:0000347)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Microretrognathia (HP:0000308)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Short neck (HP:0000470)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Single ventricle (HP:0001750)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TXNDC15
Phenotype: Talipes (HP:0001883)
Associated disease: MECKEL SYNDROME 14 (OMIM:619879)
Gene: TXNDC15
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)