TaoMedAI/RareMedData huggingface dataset:
Gene: THSD1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Gene: THSD1
Phenotype: Abnormal circle of Willis morphology (HP:0012518)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: KMT2E
Phenotype: Tapered finger (HP:0001182)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Seizure (HP:0001250)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Global developmental delay (HP:0001263)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Skin-picking (HP:0012166)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Vomiting (HP:0002013)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Infantile onset (HP:0003593)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Anxiety (HP:0000739)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Full cheeks (HP:0000293)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Macrocephaly (HP:0000256)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Kyphosis (HP:0002808)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Deeply set eye (HP:0000490)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Delayed myelination (HP:0012448)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: KMT2E
Phenotype: Prominent forehead (HP:0011220)
Associated disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Gene: ZC4H2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: High anterior hairline (HP:0009890)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Areflexia (HP:0001284)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Seizure (HP:0001250)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Hypotonia (HP:0001252)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Dysarthria (HP:0001260)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Spasticity (HP:0001257)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Spasticity (HP:0001257)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Inability to walk (HP:0002540)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Dystonia (HP:0001332)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Absent speech (HP:0001344)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Scoliosis (HP:0002650)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Scoliosis (HP:0002650)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Cleft palate (HP:0000175)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Dysphagia (HP:0002015)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Radial deviation of the hand (HP:0009486)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Apnea (HP:0002104)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Apraxia (HP:0002186)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Congenital onset (HP:0003577)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Facial palsy (HP:0010628)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Facial palsy (HP:0010628)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Drooling (HP:0002307)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Drooling (HP:0002307)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Short stature (HP:0004322)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Short stature (HP:0004322)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Narrow chest (HP:0000774)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Narrow chest (HP:0000774)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Congenital foot contractures (HP:0005745)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Congenital foot contractures (HP:0005745)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Hip contracture (HP:0003273)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Retrognathia (HP:0000278)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Kyphosis (HP:0002808)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Kyphosis (HP:0002808)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Microcephaly (HP:0000252)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Microcephaly (HP:0000252)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: High palate (HP:0000218)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Low-set ears (HP:0000369)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Low-set ears (HP:0000369)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Long philtrum (HP:0000343)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Long philtrum (HP:0000343)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: High forehead (HP:0000348)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Micrognathia (HP:0000347)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Microretrognathia (HP:0000308)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)