TaoMedAI/RareMedData huggingface dataset:
Gene: DCAF8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Steppage gait (HP:0003376)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Hammertoe (HP:0001765)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Pes cavus (HP:0001761)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: KCNK4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Hypotonia (HP:0001252)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Thick hair (HP:0100874)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Wide mouth (HP:0000154)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Deep philtrum (HP:0002002)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Intention tremor (HP:0002080)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Congenital onset (HP:0003577)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Nystagmus (HP:0000639)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Synophrys (HP:0000664)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Low-set ears (HP:0000369)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Narrow forehead (HP:0000341)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Micrognathia (HP:0000347)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Short philtrum (HP:0000322)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Long eyelashes (HP:0000527)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: KCNK4
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Gene: NSDHL
Phenotype: Syndactyly (HP:0001159)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Syndactyly (HP:0001159)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Nevus (HP:0003764)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Abnormal periungual morphology (HP:0100803)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Long fingers (HP:0100807)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Seizure (HP:0001250)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Seizure (HP:0001250)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Abnormal cerebral cortex morphology (HP:0002538)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Stillbirth (HP:0003826)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Mild intrauterine growth retardation (HP:0008883)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Pachygyria (HP:0001302)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Pachygyria (HP:0001302)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Oligodactyly (HP:0012165)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Asthenia (HP:0025406)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Renal agenesis (HP:0000104)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Polydactyly (HP:0010442)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Absent middle phalanx of 3rd finger (HP:0009438)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Aplasia of the distal phalanx of the 3rd finger (HP:0009429)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Elevated 8(9)-cholestenol (HP:0003465)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Elevated 8-dehydrocholesterol (HP:0003462)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Absent middle phalanx of 2nd finger (HP:0009576)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Aplasia of the distal phalanx of the 2nd finger (HP:0009565)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Long toe (HP:0010511)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Vertebral hypoplasia (HP:0008417)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Congenital onychodystrophy (HP:0008394)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Aphasia (HP:0002381)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Parakeratosis (HP:0001036)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Parakeratosis (HP:0001036)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Gene: NSDHL
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CK SYNDROME (OMIM:300831)
Gene: NSDHL
Phenotype: Foam cells (HP:0003651)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSDHL
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Amelia (HP:0009827)
Associated disease: CHILD syndrome; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CHILD nevus (ORPHA:139)
Gene: NSDHL
Phenotype: Epidermal nevus (HP:0010816)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSDHL
Phenotype: Erythema (HP:0010783)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Gene: NSDHL
Phenotype: Absent toe (HP:0010760)
Associated disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)