TaoMedAI/RareMedData huggingface dataset:
Gene: SMAD4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: SMAD4
Phenotype: Ptosis (HP:0000508)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
Phenotype: Short toe (HP:0001831)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome; Facial dysmorphism-intellectual disability-short stature-deafness syndrome; Myhre-LAPS syndrome; Myhre syndrome; Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (ORPHA:2588)
Gene: SMAD4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: SMAD4
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MYHRE SYNDROME (OMIM:139210)
Gene: SMAD4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD6
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CRANIOSYNOSTOSIS 7 (OMIM:617439)
Gene: SMAD6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMAD6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRANIOSYNOSTOSIS 7 (OMIM:617439)
Gene: SMAD6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO (OMIM:179300)
Gene: SMAD6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Congenital onset (HP:0003577)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Thoracic aorta calcification (HP:0004962)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMAD6
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CRANIOSYNOSTOSIS 7 (OMIM:617439)
Gene: SMAD6
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: CRANIOSYNOSTOSIS 7 (OMIM:617439)
Gene: SMAD6
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMAD6
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Typified by high penetrance (HP:4000158)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Limited pronation/supination of forearm (HP:0006394)
Associated disease: RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO (OMIM:179300)
Gene: SMAD6
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMAD6
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO (OMIM:179300)
Gene: SMAD6
Phenotype: Heart murmur (HP:0030148)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMAD6
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Gene: SMAD6
Phenotype: Abnormal left ventricular outflow tract morphology (HP:0011103)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: SMAD6
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMAD7
Phenotype: Colon cancer (HP:0003003)
Associated disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 (OMIM:612229)
Gene: SMAD9
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)
Gene: SMAD9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)
Gene: SMAD9
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)
Gene: SMAD9
Phenotype: Progressive (HP:0003676)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)
Gene: SMAD9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)
Gene: SMAD9
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)
Gene: SMAD9
Phenotype: Abnormally loud pulmonic component of the second heart sound (HP:0031687)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)
Gene: MAF
Phenotype: Tapered finger (HP:0001182)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Tapered finger (HP:0001182)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Brachydactyly (HP:0001156)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: MAF
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Microtia (HP:0008551)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Microtia (HP:0008551)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Seizure (HP:0001250)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Seizure (HP:0001250)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Proteinuria (HP:0000093)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Scoliosis (HP:0002650)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Narrow mouth (HP:0000160)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Cleft palate (HP:0000175)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Floppy infant (HP:0008947)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Midface retrusion (HP:0011800)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: MAF
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: MAF
Phenotype: Asymmetric crying face (HP:0011333)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Oligodontia (HP:0000677)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Peters anomaly (HP:0000659)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Short stature (HP:0004322)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Short stature (HP:0004322)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Reduced arm span (HP:0012770)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Short nose (HP:0003196)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Short nose (HP:0003196)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Craniofacial asymmetry (HP:0004484)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Broad philtrum (HP:0000289)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Malar flattening (HP:0000272)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Cortical pulverulent cataract (HP:0007780)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Brachycephaly (HP:0000248)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Camptodactyly (HP:0012385)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Flat face (HP:0012368)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Flat face (HP:0012368)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: High myopia (HP:0011003)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Low-set ears (HP:0000369)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Low-set ears (HP:0000369)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)