TaoMedAI/RareMedData huggingface dataset:
Gene: ASCC3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Short neck (HP:0000470)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Short foot (HP:0001773)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Pes cavus (HP:0001761)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Long eyelashes (HP:0000527)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Ptosis (HP:0000508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Short toe (HP:0001831)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Myopia (HP:0000545)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: CLP1
Phenotype: Tapered finger (HP:0001182)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Poor head control (HP:0002421)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Seizure (HP:0001250)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Spasticity (HP:0001257)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Abnormal cerebral cortex morphology (HP:0002538)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Absent speech (HP:0001344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Constipation (HP:0002019)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Syringomyelia (HP:0003396)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Synophrys (HP:0000664)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Irritability (HP:0000737)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Short nose (HP:0003196)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: High palate (HP:0000218)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Growth delay (HP:0001510)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Growth delay (HP:0001510)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Strabismus (HP:0000486)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Strabismus (HP:0000486)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Short neck (HP:0000470)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Proptosis (HP:0000520)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Proptosis (HP:0000520)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Pontocerebellar hypoplasia type 10; PCH10; CLP1-related pontocerebellar hypoplasia (ORPHA:411493)
Gene: CLP1
Phenotype: Esotropia (HP:0000565)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: CLP1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Gene: MAPRE2
Phenotype: Tapered finger (HP:0001182)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Microtia (HP:0008551)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Long fingers (HP:0100807)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Motor delay (HP:0001270)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Seizure (HP:0001250)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Ureterocele (HP:0000070)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Small scrotum (HP:0000046)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Small scrotum (HP:0000046)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Hypospadias (HP:0000047)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Increased number of skin folds (HP:0007522)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Cleft palate (HP:0000175)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Circumferential skin creases on extremities (HP:0034400)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Thickened skin (HP:0001072)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Short palm (HP:0004279)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Microdontia (HP:0000691)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Carious teeth (HP:0000670)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Synophrys (HP:0000664)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Short stature (HP:0004322)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Short stature (HP:0004322)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Edema (HP:0000969)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Epicanthus (HP:0000286)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Long face (HP:0000276)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Microcephaly (HP:0000252)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Flat face (HP:0012368)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Low-set ears (HP:0000369)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Micrognathia (HP:0000347)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)