TaoMedAI/RareMedData huggingface dataset:
Gene: GDF3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Neck pain (HP:0030833)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF3
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
Gene: GDF3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Cervical C3/C4 vertebral fusion (HP:0030281)
Associated disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
Gene: GDF3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Visual impairment (HP:0000505)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Coloboma (HP:0000589)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
Gene: GDF3
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
Gene: GDF3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42BPB
Phenotype: Tapered finger (HP:0001182)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Alternating esotropia (HP:0001137)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Mild fetal ventriculomegaly (HP:0010952)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Fetal pyelectasis (HP:0010945)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Slender finger (HP:0001238)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Chordee (HP:0000041)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Micropenis (HP:0000054)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Hypospadias (HP:0000047)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Wide mouth (HP:0000154)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Aplasia of the right hemidiaphragm (HP:0032592)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Asthma (HP:0002099)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Short fifth metatarsal (HP:0004704)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Limb tremor (HP:0200085)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Poor coordination (HP:0002370)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Tube feeding (HP:0033454)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Low hanging columella (HP:0009765)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Amblyopia (HP:0000646)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Posterior plagiocephaly (HP:0011327)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Synophrys (HP:0000664)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Short stature (HP:0004322)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Anxiety (HP:0000739)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Fetal onset (HP:0011461)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Short clavicles (HP:0000894)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Hooded eyelid (HP:0030820)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Pes valgus (HP:0008081)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Sparse hair (HP:0008070)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Short finger (HP:0009381)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Full cheeks (HP:0000293)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Long face (HP:0000276)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Asymmetry of the thorax (HP:0001555)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Broad finger (HP:0001500)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Agenesis of incisor (HP:0006485)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Low-set ears (HP:0000369)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Broad forehead (HP:0000337)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: High forehead (HP:0000348)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Micrognathia (HP:0000347)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Short philtrum (HP:0000322)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Strabismus (HP:0000486)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Broad foot (HP:0001769)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Pes planus (HP:0001763)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Epistaxis (HP:0000421)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Ptosis (HP:0000508)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Cephalohematoma (HP:0012541)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: CDC42BPB
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Gene: PREPL
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Seizure (HP:0001250)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Hypotonia (HP:0001252)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Hypotonia (HP:0001252)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Polyphagia (HP:0002591)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Waddling gait (HP:0002515)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 22 (OMIM:616224)
Gene: PREPL
Phenotype: Hypogonadism (HP:0000135)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PREPL
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HCS; Hypotonia-cystinuria syndrome (ORPHA:163690)
Gene: PREPL
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)