TaoMedAI/RareMedData huggingface dataset:
Gene: TBCK
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Developmental regression (HP:0002376)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Developmental regression (HP:0002376)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Hirsutism (HP:0001007)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Hirsutism (HP:0001007)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Tube feeding (HP:0033454)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Nystagmus (HP:0000639)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Nystagmus (HP:0000639)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Synophrys (HP:0000664)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Synophrys (HP:0000664)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Autism (HP:0000717)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Joint contracture (HP:0034392)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: EMG: myokymic discharges (HP:0100288)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: EMG: myokymic discharges (HP:0100288)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Osteoporosis (HP:0000939)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Epicanthus (HP:0000286)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Epicanthus (HP:0000286)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Coarse facial features (HP:0000280)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Coarse facial features (HP:0000280)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Turricephaly (HP:0000262)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Macrocephaly (HP:0000256)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Clinodactyly (HP:0030084)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Microcephaly (HP:0000252)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Microcephaly (HP:0000252)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Brachycephaly (HP:0000248)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: High palate (HP:0000218)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Diastasis recti (HP:0001540)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Broad finger (HP:0001500)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Broad finger (HP:0001500)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Low-set ears (HP:0000369)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Narrow forehead (HP:0000341)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Sloping forehead (HP:0000340)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Sloping forehead (HP:0000340)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Long philtrum (HP:0000343)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Long philtrum (HP:0000343)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Broad forehead (HP:0000337)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Broad forehead (HP:0000337)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Micrognathia (HP:0000347)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Corneal opacity (HP:0007957)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Strabismus (HP:0000486)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Strabismus (HP:0000486)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Deeply set eye (HP:0000490)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Deeply set eye (HP:0000490)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Brain atrophy (HP:0012444)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Short neck (HP:0000470)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Short neck (HP:0000470)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Bulbous nose (HP:0000414)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Bulbous nose (HP:0000414)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Cataract (HP:0000518)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Overlapping toe (HP:0001845)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Long eyelashes (HP:0000527)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Proptosis (HP:0000520)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Broad toe (HP:0001837)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Broad toe (HP:0001837)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Ptosis (HP:0000508)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Esotropia (HP:0000565)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: MYOCD
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: MEGABLADDER, CONGENITAL (OMIM:618719)
Gene: MYOCD
Phenotype: Fetal megacystis (HP:0010956)
Associated disease: MEGABLADDER, CONGENITAL (OMIM:618719)
Gene: MYOCD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEGABLADDER, CONGENITAL (OMIM:618719)
Gene: MYOCD
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: MEGABLADDER, CONGENITAL (OMIM:618719)
Gene: MYOCD
Phenotype: Multiple glomerular cysts (HP:0100611)
Associated disease: MEGABLADDER, CONGENITAL (OMIM:618719)
Gene: MYOCD
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: MEGABLADDER, CONGENITAL (OMIM:618719)
Gene: MYOCD
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MEGABLADDER, CONGENITAL (OMIM:618719)
Gene: MYOCD
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MEGABLADDER, CONGENITAL (OMIM:618719)
Gene: MYOCD
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MEGABLADDER, CONGENITAL (OMIM:618719)
Gene: MYOCD
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MEGABLADDER, CONGENITAL (OMIM:618719)
Gene: ACP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IJ (OMIM:617297)
Gene: ACP4
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IJ (OMIM:617297)
Gene: ACP4
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IJ (OMIM:617297)
Gene: ACP4
Phenotype: Carious teeth (HP:0000670)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IJ (OMIM:617297)
Gene: ACP4
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IJ (OMIM:617297)
Gene: ACP4
Phenotype: Abnormal dentin morphology (HP:0010299)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IJ (OMIM:617297)
Gene: ACP4
Phenotype: Increased overbite (HP:0011094)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IJ (OMIM:617297)
Gene: GCNA
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: GCNA
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: GCNA
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: GCNA
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 4 (OMIM:301077)
Gene: GCNA
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: GCNA
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 4 (OMIM:301077)
Gene: GCNA
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 4 (OMIM:301077)
Gene: GCNA
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 4 (OMIM:301077)
Gene: GCNA
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: GCNA
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: GCNA
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 4 (OMIM:301077)
Gene: GCNA
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: GCNA
Phenotype: Abnormal prolactin level (HP:0040086)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 4 (OMIM:301077)
Gene: GCNA
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 4 (OMIM:301077)
Gene: GCNA
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 4 (OMIM:301077)
Gene: FOXP2
Phenotype: Poor speech (HP:0002465)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: SPEECH-LANGUAGE DISORDER 1 (OMIM:602081)
Gene: FOXP2
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Receptive language delay (HP:0010863)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)
Gene: FOXP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Dysarthria (HP:0001260)
Associated disease: 7q31 microdeletion syndrome; Del(7)(q31); Monosomy 7q31 (ORPHA:251061)
Gene: FOXP2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Isolated developmental verbal dyspraxia; Isolated CAS; Isolated childhood apraxia of speech; Speech and language disorder with orofacial dyspraxia; Pure CAS; Pure childhood apraxia of speech; Speech-language disorder type 1 (ORPHA:209908)