TaoMedAI/RareMedData huggingface dataset:
Gene: DPH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Death in childhood (HP:0003819)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Proteinuria (HP:0000093)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Small hand (HP:0200055)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Natal tooth (HP:0000695)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Short stature (HP:0004322)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Short stature (HP:0004322)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Enuresis (HP:0000805)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Anxiety (HP:0000739)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Mild hearing impairment (HP:0012712)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Hematuria (HP:0000790)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Death in infancy (HP:0001522)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Micrognathia (HP:0000347)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Pes planus (HP:0001763)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Pes planus (HP:0001763)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: High anterior hairline (HP:0009890)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Seizure (HP:0001250)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Small hand (HP:0200055)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Short stature (HP:0004322)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Short stature (HP:0004322)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Enuresis (HP:0000805)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Anxiety (HP:0000739)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Mild hearing impairment (HP:0012712)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH2
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Gene: DPH2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)