hypoplasia Small clitoris Underdeveloped clit [ more ] 0000060 Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight
[rarediseases.info.nih.gov]
(eg, cryptorchidism, scrotal hypoplasia, clitoral hypoplasia). [37] Neonatal hypotonia is one of the hallmark features of this disorder and is a valuable clue to initiate
[emedicine.medscape.com]
PWS females are born with hypoplasia of the external genitalia with labia minora and clitoral hypoplasia in up to 76% (24).
[tp.amegroups.com]
[…] involving the metacarpal bones ; Autosomal recessive inheritance ; Bifid distal phalanx of toe ; Bifid tongue ; Brachydactyly ; Broad thumb ; Broad toe ; Clinodactyly ; Clitoral
[mousephenotype.org]
Sacral dimple (HP:0000960), Clitoral hypoplasia (HP:0000060), Vesicoureteral reflux (HP_0000076), Omphalocele (HP_0001539) - - Familial, autosomal dominant 10y - - - - Pieter
[databases.lovd.nl]
hypoplasia Small clitoris Underdeveloped clit [ more ] 0000060 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Delayed cranial suture closure 0000270
[rarediseases.info.nih.gov]
Microcornea Microphthalmia Optic atrophy Ptosis Strabismus Abnormality of the genitourinary system Clitoral hypoplasia Cryptorchidism Hypospadias Labial hypoplasia Abnormality
[ncbi.nlm.nih.gov]
[…] defect Abnormality of the digestive system Annular pancreas Pyloric stenosis Abnormality of the eye Amblyopia Chorioretinal coloboma Hypertelorism Iris coloboma Macular hypoplasia
[ncbi.nlm.nih.gov]
Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and
[pubmed.ncbi.nlm.nih.gov]
hypoplasia Normocytic anemia Fingernail dysplasia Abnormality of metabolism/homeostasis Intellectual disability, mild Polyhydramnios Narrow chest Knee osteoarthritis Flattened
[mendelian.co]
[…] short stature Exaggerated cupid's bow Broad toe Ankyloglossia Forearm undergrowth Abnormal tricuspid valve morphology Triangular mouth Delayed eruption of permanent teeth Clitoral
[mendelian.co]
Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and
[ncbi.nlm.nih.gov]
[…] retardation with no words or signs, axial hypotonia, hypotonic upper limbs, hypertonic lower limbs with contractures, myoclonic seizures, and hypoplastic labia minora and clitoral
[bio2rdf.org]
[…] displaced anus, intestinal malrotation, esophageal papillomas, inguinal hernia, clitoral hypoplasia, labial hypoplasia, cryptorchidism, horseshoe kidney, hydronephrosis,
[iofbonehealth.org]
rib hypoplasia, supernumerary nipples, symmetric breast, nipple hypoplasia, diaphragmatic hernia, umbilical hernia, omphalocele, diastasis recti, hiatus hernia, anteriorly
[iofbonehealth.org]
[…] cleft lip, cleft palate, hypodontia, oligodontia, enamel hypoplasia, delayed eruption, malocclusion, notched incisors, papillomatosis, midclavicular aplasia, midclavicular hypoplasia
[iofbonehealth.org]
[…] hypertrophy ; Clitoral hypoplasia ; Craniosynostosis ; Cryptorchidism ; Delayed skeletal maturation ; Elbow dislocation ; Epispadias ; Failure to thrive ; Feeding difficulties
[mousephenotype.org]
[…] the ribs ; Anotia ; Aplastic clavicle ; Atresia of the external auditory canal ; Bifid uvula ; Breast aplasia ; Camptodactyly of finger ; Clinodactyly of the 5th finger ; Clitoral
[mousephenotype.org]
OMIM:613159 Peters-Plus Syndrome Cleft palate, Clitoral hypoplasia, Anteriorly placed anus, Umbilical hernia, Hypoplastic labia ma...
[mousephenotype.org]
OMIM:270400 Renal Dysplasia-Limb Defects Syndrome High palate, Narrow mouth, Thin vermilion border, Neonatal death, Renal hypoplasia, Clitoral hype...
[mousephenotype.org]
[…] of the uterus, Clitoral hypertrophy, Gonadal dysgenesis OMIM:612964 Normosmic Congenital Hypogonadotropic Hypogonadism Hypoplasia of the uterus, Hypoplasia of the ovary,
[mousephenotype.org]
Hospital case notes review, and genital examination for prevalence of vaginal and clitoral hypoplasia.
[citeseerx.ist.psu.edu]
Self-completed survey of sexual function, genital normality perceptions, and compliance and satisfaction with vaginal hypoplasia treatments.
[ncbi.nlm.nih.gov]
Intervention(s): Self-completed survey of sexual function, genital normality perceptions, and compliance and satisfaction with vaginal hypoplasia treatments.
[citeseerx.ist.psu.edu]
[…] nodules, hypoplastic external genitalia with clitoral hypertrophy, hypoplasia of the nails, a tendency towards dorsiflexion of the big toe on both feet, ankyloblepharon filiforme
[ncbi.nlm.nih.gov]
The neonatal report outlines dysplastic phenotype, micrognathia, hypoplasia of the hard and soft palate, cleft palate, small nose, mammary hypoplasia with ectopic mammary
[ncbi.nlm.nih.gov]
hypoplasia Poor gross motor coordination Almond-shaped palpebral fissure Hypoplastic labia minora Narrow palm Temperature instability Central adrenal insufficiency Disseminated
[mendelian.co]
Hypogonadotrophic hypogonadism Bradycardia Insulin resistance Cyanosis Clumsiness Abnormality of the cardiovascular system Striae distensae Central hypotonia Primary amenorrhea Clitoral
[mendelian.co]
[…] of the vagina, Cryptorchidism, Clitoral hypoplasia, Hypoplas...
[mousephenotype.org]
[…] ovarian insufficiency, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964 46,Xy Sex Reversal 7 Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis
[mousephenotype.org]
OMIM:261540 Peters Plus Syndrome Cryptorchidism, Clitoral hypoplasia, Hypoplasia of the uterus, Hypospadias ORPHA:709 Pallister-Killian Syndrome Hypoplastic labia majora,
[mousephenotype.org]
Clitoral hypoplasia MedGen UID: 336198 • Concept ID: C1844527 • Finding Developmental hypoplasia of the clitoris.
[ncbi.nlm.nih.gov]
Patellar hypoplasia MedGen UID: 327021 • Concept ID: C1840068 • Finding Underdevelopment of the patella.
[ncbi.nlm.nih.gov]
hypoplasia Small clitoris Underdeveloped clit [ more ] 0000060 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Delayed cranial suture closure 0000270
[rarediseases.info.nih.gov]
Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities
[ncbi.nlm.nih.gov]
Genital abnormalities in affected females are generally subtle, most commonly with reduced clitoral size and hypoplasia of the labia minora, although more rare anomalies such
[hindawi.com]
hypoplasia Bilobate gallbladder Intestinal fistula Anterior chamber synechiae Square pelvis bone Agenesis of maxillary lateral incisor Facial hypertrichosis Conical incisor
[mendelian.co]
[…] ears Wide mouth Thin upper lip vermilion Umbilical hernia Cerebral cortical atrophy Pes cavus Hypospadias Multicystic kidney dysplasia Short metatarsal Cerebral atrophy Clitoral
[mendelian.co]
hypoplasia Narrow palm Abdominal obesity Anteverted ears Frontal upsweep of hair Cor pulmonale Generalized hypopigmentation Left ventricular hypertrophy Labial hypoplasia
[mendelian.co]
[…] coordination Temperature instability Central adrenal insufficiency Disseminated intravascular coagulation Psychotic episodes Triangular mouth Short proximal phalanx of thumb Clitoral
[mendelian.co]
hypoplasia Reticular hyperpigmentation Mania Abnormal adipose tissue morphology Absent speech Abnormality of the kidney Autistic behavior Genu valgum Irritability Developmental
[mendelian.co]
Low anterior hairline Generalized hirsutism Short thorax Sclerocornea Underdeveloped supraorbital ridges Abnormal eyelid morphology Wide anterior fontanel Clitoral hypertrophy
[mendelian.co]
[…] return Inspiratory stridor Foot oligodactyly Abnormal cornea morphology Patchy alopecia Cholangitis Abnormality of the middle ear Total anomalous pulmonary venous return Clitoral
[mendelian.co]
hypoplasia Breast hypoplasia Oligospermia Low hanging columella Hypoplastic pelvis Agenesis of permanent teeth Gingival overgrowth High pitched voice Cone-shaped epiphysis
[mendelian.co]
[…] retardation Wide mouth Osteopenia Mandibular prognathia Oxycephaly Type II diabetes mellitus Dental crowding Retrognathia Hypoplastic fingernail Hypoplastic sacrum Frontal balding Clitoral
[mendelian.co]
hypoplasia Clitoral hypoplasia phenotype Finding 30 0.100 0 CUI: C1842366 Disease: Low anterior hairline Low anterior hairline phenotype Finding 48 1 0.100 0 CUI: C4280808
[disgenet.org]
[…] phenotype Acquired Abnormality 156 0.100 0 CUI: C4280625 Disease: Decreased size of eyeball Decreased size of eyeball phenotype Finding 144 0.100 0 CUI: C1844527 Disease: Clitoral
[disgenet.org]
hypoplasia Abdominal distention Hypoplastic toenails Septo-optic dysplasia Narrow nasal bridge Disseminated intravascular coagulation Short toe Atrial septal defect Hypothermia
[mendelian.co]
Erysipelas Narrow palm Poor fine motor coordination Hypoplastic labia minora Almond-shaped palpebral fissure Poor gross motor coordination Acromicria Fatigue Constipation Clitoral
[mendelian.co]
[…] scalp veins Advanced ossification of carpal bones Forearm undergrowth Respiratory tract infection Hip dislocation Long toe Hypoplastic nipples Diaphragmatic eventration Clitoral
[mendelian.co]
hypoplasia Long clavicles Fused cervical vertebrae Rib fusion Male hypogonadism Patellar aplasia Furrowed tongue Abnormality of the neck Down-sloping shoulders Distal arthrogryposis
[mendelian.co]
Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and
[ncbi.nlm.nih.gov]
[…] involving the skeletal musculature Joint stiffness Retinal atrophy Abnormal aldolase level Clitoral hypoplasia Fine hair Corneal opacity Dysphonia Brittle hair Osteoporosis
[mendelian.co]
[…] dysplasia Long philtrum Elevated serum creatine phosphokinase Severe global developmental delay Congenital muscular dystrophy Coloboma Low-set, posteriorly rotated ears Aplasia/Hypoplasia
[mendelian.co]
[…] of the vagina Exaggerated cupid's bow Birth length less than 3rd percentile Rieger anomaly Clitoral hypoplasia Abnormality of the pulmonary artery Mandibular prognathia Hypothyroidism
[mendelian.co]
[…] gallbladder Anterior chamber synechiae Hypogonadism Square pelvis bone Agenesis of maxillary lateral incisor Facial hypertrichosis Conical incisor Short lingual frenulum Hypoplasia
[mendelian.co]
hypoplasia Diabetes mellitus Labial hypoplasia Abnormality of lipid metabolism Hypogonadism Stroke Carious teeth Hypoglycemia Tracheomalacia Anal stenosis Failure to thrive
[mendelian.co]
Hypogonadotrophic hypogonadism Obesity Diastasis recti Motor delay Neoplasm Glucose intolerance Kyphosis Congestive heart failure Hydrocephalus Syndactyly Tracheoesophageal fistula Clitoral
[mendelian.co]
hypoplasia Abnormality of dental enamel Preauricular skin tag Pancytopenia Fine hair Chronic diarrhea Hepatic fibrosis Aortic regurgitation Short ear Leukopenia Woolly hair
[mendelian.co]
Postnatal growth retardation Intellectual disability, severe Ptosis Wide nose Sepsis Hepatic failure Premature birth Aciduria Tetralogy of Fallot Absent sternal ossification Clitoral
[mendelian.co]
hypoplasia Small clitoris Underdeveloped clit [ more ] 0000060 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened
[rarediseases.info.nih.gov]
[…] coloboma Birth defect that causes a hole in the innermost layer at the back of the eye 0000567 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Clitoral
[rarediseases.info.nih.gov]
Clitoral hypoplasia; [Internal genitalia, male]; Cryptorchidism SKELETAL: [Limbs]; Joint contractures; [Hands]; Fifth finger clinodactyly; Brachydactyly NEUROLOGIC: [Central
[genome.jp]
ABDOMEN: [Pancreas]; Annular pancreas; [Gastrointestinal]; Pyloric stenosis GENITOURINARY: [External genitalia, male]; Hypospadias; [External genitalia, female]; Labial hypoplasia
[genome.jp]
hypoplasia Strabismus Hypoplastic labia minora Brachycephaly Arrhythmia Congenital onset Optic atrophy Short philtrum Flat face Pain Depressed nasal bridge Contractures of
[mendelian.co]
Small for gestational age Long palpebral fissure Clinodactyly of the 5th finger Elbow flexion contracture Postnatal growth retardation Hypsarrhythmia High, narrow palate Clitoral
[mendelian.co]
hypoplasia Male hypogonadism Flushing Popliteal pterygium Hypoplasia of the musculature Oculomotor nerve palsy Prune belly Laryngeal stenosis Aplasia of the pectoralis major
[mendelian.co]
[…] phalanx of finger Megalocornea Narrow palpebral fissure Finger clinodactyly Abnormality of the hand Short toe Nephritis Abnormality of the larynx Ulnar deviation of the hand Clitoral
[mendelian.co]