Cognitive impairment, and Ambiguous genitalia

Diseases related with Cognitive impairment and Ambiguous genitalia

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Ambiguous genitalia that can help you solving undiagnosed cases.


Top matches:

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Low match ACROCALLOSAL SYNDROME


Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

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Other less relevant matches:

Low match DENYS-DRASH SYNDROME; DDS


DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Low match 46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY


46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.

46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY Is also known as xy sex reversal-adrenal failure|p450scc deficiency

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Talipes equinovarus
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY

Low match VAN DER WOUDE SYNDROME 1; VWS1


Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Low match CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED


CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Low match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Low match BARTSOCAS-PAPAS SYNDROME


Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Ambiguous genitalia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Ambiguous genitalia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Cleft palate Micropenis Micrognathia Generalized hypotonia Global developmental delay Short stature Male pseudohermaphroditism Abnormality of the genital system Abnormality of the kidney Talipes equinovarus Flexion contracture Feeding difficulties Hearing impairment Growth delay Low-set ears

Rare Symptoms - Less than 30% cases


Hypertonia Multiple cafe-au-lait spots Nystagmus Respiratory insufficiency Renal insufficiency Hernia Oculomotor apraxia Sensorineural hearing impairment Lethargy Stage 5 chronic kidney disease Congenital diaphragmatic hernia Aplasia/Hypoplasia of the cerebellum Ambiguous genitalia, male Uterus didelphys Recurrent urinary tract infections Hypospadias Clitoral hypertrophy Renal hypoplasia Syndactyly Hypoplastic labia majora Ankyloblepharon Popliteal pterygium Oral cleft Cleft upper lip Toe syndactyly Finger syndactyly Joint stiffness Cleft lip Thin upper lip vermilion Scoliosis Agenesis of corpus callosum Wide nasal bridge Optic atrophy Hypoplasia of the corpus callosum Spastic paraplegia Sex reversal Bilateral cryptorchidism Aplasia/Hypoplasia of the corpus callosum Anteverted nares Autism Talipes Nephroblastoma Pterygium Apnea Depressed nasal bridge Short palpebral fissure Depressed nasal ridge Clinodactyly of the 5th finger Delayed skeletal maturation Sloping forehead Ventriculomegaly Abnormality of cardiovascular system morphology Dandy-Walker malformation Corneal opacity Microphthalmia Intrauterine growth retardation Blepharophimosis Neoplasm Abnormal facial shape Muscular hypotonia Short nose Cafe-au-lait spot Long face Hypoplasia of the brainstem Thick upper lip vermilion Flat occiput Hypoplasia of the pons Olivopontocerebellar hypoplasia Prominent supraorbital ridges Nevus flammeus Strabismus Hypergonadotropic hypogonadism Fasciculations Microphallus Dilatation Delayed speech and language development Poor speech Hypoplastic scapulae Eyelid coloboma Prominent superficial veins Oligohydramnios Renal agenesis Vesicoureteral reflux Labial hypoplasia Motor delay Microtia Abnormal cardiac septum morphology Autistic behavior Abnormality of the nervous system Alopecia totalis Sparse or absent eyelashes Short sternum Progressive microcephaly Sacral dimple Esotropia Sparse lower eyelashes Hypoplastic male external genitalia Muscle weakness Unilateral renal hypoplasia Intercrural pterygium Adactyly Oral synechia Lower lip pit High palate Bilateral cleft palate Fibrous syngnathia Lip pit Nonketotic hyperglycinemia Ankyloglossia Non-midline cleft lip Bifid scrotum Spasticity Hyperreflexia Delayed myelination Renal dysplasia Nevus Chorea Gliosis Abnormality of the cerebral white matter Aplasia/Hypoplasia of the distal phalanges of the toes Irritability Macrotia Synostosis of joints Upslanted palpebral fissure Hypogonadism Myoclonus Cerebellar hypoplasia Absent speech Cerebral atrophy Dystonia Muscular hypotonia of the trunk Spina bifida occulta Skin tags Mask-like facies U-Shaped upper lip vermilion Abnormal hemoglobin Profound global developmental delay Volvulus Absent eyebrow Dysphasia Self-injurious behavior Encephalitis Abnormality of the male genitalia Tented upper lip vermilion Abnormality of the face Aganglionic megacolon Thick lower lip vermilion Hypoplasia of penis Macroglossia Everted lower lip vermilion Abnormality of fontanelles Short neck Hypoplastic toenails Sparse scalp hair Opacification of the corneal stroma Renal hypoplasia/aplasia Short thumb Short phalanx of finger Omphalocele Ectropion Cupped ear Small nail Obesity Wide intermamillary distance Underdeveloped nasal alae Hypoplasia of the maxilla Confusion Arthrogryposis multiplex congenita Pes planus Narrow mouth Alopecia Flat face Abnormality of movement Narrow face Thickened helices Decreased numbers of nephrons Median cleft lip Bifid ureter Urethral valve Hypoplastic helices Anteverted ears Hyperechogenic kidneys Poor eye contact Brachydactyly Ectopic kidney Deep philtrum Chronic kidney disease Absent eyelashes Abnormality of the urinary system Narrow palpebral fissure Horseshoe kidney Spina bifida Anemia Myopia Nausea and vomiting Truncal obesity Feeding difficulties in infancy Telecanthus Hydronephrosis Anonychia Aplasia/Hypoplasia of the eyebrow Scrotal hypoplasia Cerebral cortical atrophy Constipation Blindness Absent thumb Depressivity Midface retrusion Behavioral abnormality Facial cleft Abnormality of the dentition Aplasia cutis congenita Anal stenosis Gastroesophageal reflux Adrenocorticotropic hormone excess Cerebral palsy Abnormal aortic morphology Intellectual disability, severe Macrocephaly Ataxia Vaginal neoplasm Premature chromatid separation Epidermoid cyst Increased nuchal translucency Stomach cancer Polydactyly Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Duodenal atresia Abnormality of the skull Acute lymphoblastic leukemia Inguinal hernia Retinopathy Abnormality of immune system physiology Abnormality of the clavicle Pallor Proteinuria Weight loss Recurrent infections Edema Fever Hypertension Nephronophthisis Postaxial polydactyly Molar tooth sign on MRI Prominent occiput Triphalangeal thumb Wide anterior fontanel Tall stature Apraxia Postaxial hand polydactyly Retinal dystrophy Abnormal lung lobation Atrioventricular canal defect Abdominal distention Abnormal heart morphology Abnormality of the eye Low-set, posteriorly rotated ears Deeply set eye High forehead Polyhydramnios Hypothyroidism Glaucoma Clinodactyly Small for gestational age Intellectual disability, mild Atrial septal defect Ventricular septal defect Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Cataract Craniosynostosis Muscular dystrophy Colon cancer Finger clinodactyly Myelodysplasia Abnormality of vision Sleep apnea Aortic regurgitation Holoprosencephaly Microretrognathia Osteolysis Multicystic kidney dysplasia Dolichocephaly Rhizomelia Coarctation of aorta Growth hormone deficiency Triangular face Ascites Wide nose Bulbous nose Abnormality of skin pigmentation Nephropathy Amenorrhea Generalized hirsutism Decreased circulating aldosterone level Abnormal sex determination Hypernatriuria Female external genitalia in individual with 46,XY karyotype Hypovolemia Increased circulating ACTH level Urogenital sinus anomaly Increased circulating renin level Elevated circulating luteinizing hormone level Decreased circulating androgen level Abnormal vagina morphology Aplasia of the uterus Absence of secondary sex characteristics Elevated circulating follicle stimulating hormone level Decreased circulating cortisol level Renal salt wasting Adrenal hyperplasia Abnormality of cholesterol metabolism Generalized bronze hyperpigmentation Adrenal hypoplasia Hypodontia Abnormality of the nail Choanal atresia Split hand Abnormality of the ribs Specific learning disability Otitis media Bifid uvula Falls Abnormality of prenatal development or birth Neurological speech impairment Difficulty walking Respiratory distress Induced vaginal delivery Abnormal urine potassium concentration Midshaft hypospadias Low maternal serum estriol Abnormality of the Leydig cells Hyperaldosteronism Neonatal hypoglycemia Nephrotic syndrome Diffuse mesangial sclerosis Gonadal tissue inappropriate for external genitalia or chromosomal sex Ovarian gonadoblastoma True hermaphroditism Anuria Streak ovary Low-grade fever Ambiguous genitalia, female Abnormal renal physiology Vomiting Gonadoblastoma Aniridia Gonadal dysgenesis Glomerulopathy Focal segmental glomerulosclerosis Glomerulonephritis Glomerulosclerosis Primary amenorrhea Failure to thrive Osteoporosis Primary adrenal insufficiency Gynecomastia Generalized hyperpigmentation Decreased fertility Hyperkalemia Bilateral talipes equinovarus Adrenal insufficiency Hyponatremia Reduced bone mineral density Hyperpigmentation of the skin Respiratory failure Dehydration Cyanosis Decreased testicular size Hypotension Premature birth Vertigo Delayed puberty Acidosis Symblepharon



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