TaoMedAI/RareMedData huggingface dataset:
Gene: CYP4V2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DOK7
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Generalized edema (HP:0007430)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 3 (OMIM:618389)
Gene: DOK7
Phenotype: Waddling gait (HP:0002515)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 3 (OMIM:618389)
Gene: DOK7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Scoliosis (HP:0002650)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Scoliosis (HP:0002650)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Triceps weakness (HP:0031108)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Cleft palate (HP:0000175)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Abnormality of the musculature of the upper limbs (HP:0001446)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Decreased miniature endplate potentials (HP:0003402)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 3 (OMIM:618389)
Gene: DOK7
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Facial palsy (HP:0010628)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Pterygium (HP:0001059)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Hypokinesia (HP:0002375)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Drowsiness (HP:0002329)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Akinesia (HP:0002304)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Diplopia (HP:0000651)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 3 (OMIM:618389)
Gene: DOK7
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Orthopnea (HP:0012764)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Cyanosis (HP:0000961)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: High palate (HP:0000218)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Intestinal hypoplasia (HP:0005245)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Fatigable weakness of neck muscles (HP:0030199)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Micrognathia (HP:0000347)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Micrognathia (HP:0000347)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 3 (OMIM:618389)
Gene: DOK7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: DOK7
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 3 (OMIM:618389)
Gene: DOK7
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Short neck (HP:0000470)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 3 (OMIM:618389)
Gene: DOK7
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 3 (OMIM:618389)
Gene: DOK7
Phenotype: Ptosis (HP:0000508)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: DOK7
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: DOK7
Phenotype: Talipes (HP:0001883)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 3 (OMIM:618389)
Gene: DOK7
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: RNF212
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RNF212
Phenotype: Spermatocyte maturation arrest (HP:0031039)
Associated disease: SPERMATOGENIC FAILURE 62 (OMIM:619673)
Gene: RNF212
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RNF212
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RNF212
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 62 (OMIM:619673)
Gene: RNF212
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RNF212
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 62 (OMIM:619673)
Gene: RNF212
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RNF212
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RNF212
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RNF212
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 62 (OMIM:619673)
Gene: SH3PXD2B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Simple ear (HP:0020206)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Motor delay (HP:0001270)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Scoliosis (HP:0002650)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Wormian bones (HP:0002645)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Osteolysis (HP:0002797)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Wide mouth (HP:0000154)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Wide mouth (HP:0000154)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Anterior concavity of thoracic vertebrae (HP:0004611)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Acne (HP:0001061)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Acne (HP:0001061)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Thickened skin (HP:0001072)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Short palm (HP:0004279)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)