TaoMedAI/RareMedData huggingface dataset:
Gene: NALCN
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: NALCN
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Absent speech (HP:0001344)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Scoliosis (HP:0002650)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: NALCN
Phenotype: Wide mouth (HP:0000154)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Constipation (HP:0002019)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Constipation (HP:0002019)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Constipation (HP:0002019)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Short columella (HP:0002000)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Short columella (HP:0002000)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: NALCN
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: NALCN
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: NALCN
Phenotype: Chin with H-shaped crease (HP:0011824)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Chin with H-shaped crease (HP:0011824)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Hernia (HP:0100790)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Hernia (HP:0100790)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Developmental regression (HP:0002376)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Progressive (HP:0003676)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Dimple chin (HP:0010751)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Drooling (HP:0002307)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Drooling (HP:0002307)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Nystagmus (HP:0000639)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Short stature (HP:0004322)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Short stature (HP:0004322)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Short stature (HP:0004322)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Short nose (HP:0003196)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Joint contracture (HP:0034392)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Hip contracture (HP:0003273)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: NALCN
Phenotype: Epicanthus (HP:0000286)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Full cheeks (HP:0000293)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Narrow face (HP:0000275)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Congenital contracture (HP:0002803)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Microcephaly (HP:0000252)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Microcephaly (HP:0000252)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Brachycephaly (HP:0000248)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: High palate (HP:0000218)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: High palate (HP:0000218)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Prenatal movement abnormality (HP:0001557)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Pursed lips (HP:0000205)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Pursed lips (HP:0000205)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Growth delay (HP:0001510)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Low-set ears (HP:0000369)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Low-set ears (HP:0000369)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Long philtrum (HP:0000343)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Long philtrum (HP:0000343)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Long philtrum (HP:0000343)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Broad forehead (HP:0000337)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Micrognathia (HP:0000347)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Micrognathia (HP:0000347)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Micrognathia (HP:0000347)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)