TaoMedAI/RareMedData huggingface dataset:
Gene: PIGL
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Short neck (HP:0000470)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Webbed neck (HP:0000465)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Short foot (HP:0001773)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Telecanthus (HP:0000506)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Ptosis (HP:0000508)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Long foot (HP:0001833)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Congenital disorder of glycosylation due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; CHIME syndrome; Zunich-Kaye syndrome; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Neuroectodermal dysplasia, CHIME type (ORPHA:3474)
Gene: PIGL
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Prominent forehead (HP:0011220)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Esotropia (HP:0000565)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGL
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Gene: PIGL
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGB
Phenotype: Tapered finger (HP:0001182)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Areflexia (HP:0001284)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Wide mouth (HP:0000154)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Abnormal visual fixation (HP:0025404)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Protruding tongue (HP:0010808)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Full cheeks (HP:0000293)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: High palate (HP:0000218)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Death in infancy (HP:0001522)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Growth delay (HP:0001510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Overfolded helix (HP:0000396)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Long philtrum (HP:0000343)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Micrognathia (HP:0000347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Pointed chin (HP:0000307)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Small nail (HP:0001792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Proptosis (HP:0000520)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: PIGB
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Gene: KIF23
Phenotype: Increased total iron binding capacity (HP:0025196)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III (OMIM:105600)
Gene: KIF23
Phenotype: Abnormal cellular phenotype (HP:0025354)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III (OMIM:105600)
Gene: KIF23
Phenotype: Abnormal erythroid lineage cell morphology (HP:0012130)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III (OMIM:105600)
Gene: KIF23
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Post-partum hemorrhage (HP:0011891)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Melena (HP:0002249)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Congenital hypoplastic anemia (HP:0004810)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III (OMIM:105600)
Gene: KIF23
Phenotype: Headache (HP:0002315)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Abnormal proerythroblast morphology (HP:0025035)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III (OMIM:105600)
Gene: KIF23
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III (OMIM:105600)
Gene: KIF23
Phenotype: Anemia (HP:0001903)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Short stature (HP:0004322)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Pallor (HP:0000980)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Jaundice (HP:0000952)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III (OMIM:105600)
Gene: KIF23
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Fatigue (HP:0012378)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Oral cavity bleeding (HP:0030140)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Anisocytosis (HP:0011273)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: KIF23
Phenotype: Hemosiderinuria (HP:0012543)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III (OMIM:105600)
Gene: KIF23
Phenotype: Abnormal erythrocyte morphology (HP:0001877)
Associated disease: CDA type III; Congenital dyserythropoietic anemia type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDA III (ORPHA:98870)
Gene: TBX4
Phenotype: Aplasia/Hypoplasia involving the nose (HP:0009924)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Microtia (HP:0008551)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Long fingers (HP:0100807)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Hypoplasia of the lesser trochanter (HP:0008801)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Small scrotum (HP:0000046)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Hereditary clubfoot due to 17q23.1-q23.2 microduplication; Familial clubfoot due to 17q23.1q23.2 microduplication (ORPHA:238578)
Gene: TBX4
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Small patella syndrome; Scott-Taor syndrome; Ischiocoxopodopatellar syndrome; Coxopodopatellar syndrome; SPS; Ischiopubicpatellar syndrome; Ischiopatellar dysplasia (ORPHA:1509)
Gene: TBX4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Wide capital femoral epiphyses (HP:0008784)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELIA, POSTERIOR, WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME (OMIM:601360)
Gene: TBX4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Small patella syndrome; Scott-Taor syndrome; Ischiocoxopodopatellar syndrome; Coxopodopatellar syndrome; SPS; Ischiopubicpatellar syndrome; Ischiopatellar dysplasia (ORPHA:1509)
Gene: TBX4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Cleft palate (HP:0000175)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Anal atresia (HP:0002023)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)