Motor delay, and Hypopigmentation of the skin

Diseases related with Motor delay and Hypopigmentation of the skin

In the following list you will find some of the most common rare diseases related to Motor delay and Hypopigmentation of the skin that can help you solving undiagnosed cases.


Top matches:

Low match AL-RAQAD SYNDROME; ARS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Low match AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3


The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Low match HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA


Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

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Other less relevant matches:

Low match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Low match ANGELMAN SYNDROME; AS


Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Low match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Low match TUBEROUS SCLEROSIS COMPLEX


Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

Low match MENKES DISEASE


Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Low match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Top 5 symptoms//phenotypes associated to Motor delay and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Motor delay and Hypopigmentation of the skin. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Hearing impairment Behavioral abnormality Nystagmus Growth delay Anxiety Gait ataxia Strabismus Spasticity Wide nasal bridge Autism Absent speech Abnormal facial shape Cerebellar atrophy Intellectual disability, severe Myopia Blue irides Neurological speech impairment Cryptorchidism Mandibular prognathia Generalized-onset seizure Constipation Fair hair Cognitive impairment Hypoplasia of the corpus callosum Abnormal cerebellum morphology Hypopigmented skin patches Anteverted nares Pes cavus Incoordination Optic atrophy Deeply set eye Sensorineural hearing impairment Neonatal hypotonia Short stature Scoliosis Cataract Unsteady gait Hyperreflexia Dysarthria Tremor

Rare Symptoms - Less than 30% cases


Hyperactivity Brachycephaly Feeding difficulties Dilatation Encephalopathy Vomiting Gastroesophageal reflux Abnormality of the liver Dry skin Abnormality of movement Hypertelorism Mask-like facies Failure to thrive Attention deficit hyperactivity disorder Specific learning disability Cerebral cortical atrophy Cerebral atrophy Cerebral calcification Aplasia/Hypoplasia of the corpus callosum Prominent occiput EEG abnormality Sleep disturbance Feeding difficulties in infancy Intellectual disability, progressive Full cheeks Abnormal autonomic nervous system physiology Severe global developmental delay Aganglionic megacolon Abnormal palate morphology Coarse hair Arrhythmia Happy demeanor Self-injurious behavior Widely spaced teeth Postnatal microcephaly Autistic behavior Abnormality of the face Aggressive behavior Hypertonia Intellectual disability, profound Fatigue Postnatal growth retardation Intrauterine growth retardation Hypopigmentation of hair Astigmatism Wide mouth Prominent nasal bridge Inguinal hernia Cerebellar hypoplasia Generalized hypopigmentation Pes planus Hepatomegaly Intellectual disability, mild Malabsorption Splenomegaly Low-set ears Limb ataxia White hair Hepatosplenomegaly Albinism Hyporeflexia Pneumonia Ocular albinism Coarse facial features Thin upper lip vermilion Joint laxity Reduced visual acuity Upslanted palpebral fissure Visual impairment Tetraparesis Gastrointestinal hemorrhage Pes valgus Chorea Sepsis Recurrent fractures Neurodegeneration Joint hyperflexibility Narrow chest Nausea and vomiting Fine hair Choreoathetosis Progressive neurologic deterioration Iron deficiency anemia Opisthotonus Hypoplastic left heart Osteomyelitis Myopathic facies Cerebral hemorrhage Metaphyseal widening Intracranial hemorrhage Hyperextensible skin Scleroderma Shock Sparse scalp hair Cutis laxa Spastic tetraparesis Joint dislocation Wormian bones Thickened skin Chronic diarrhea Bowing of the long bones Poor coordination Abnormality of the metaphysis Self-mutilation Abnormal posturing Developmental regression Mood changes Renal angiomyolipoma Phenylpyruvic acidemia Hypomelanotic macule Cardiac rhabdomyoma Subependymal nodules Reduced phenylalanine hydroxylase activity Cortical tubers Chordoma Retinal hamartoma Angiofibromas Optic nerve glioma Dental enamel pits Macrodactyly Shagreen patch Ependymoma Third degree atrioventricular block Adenoma sebaceum Chylothorax Abnormality of the pleura Rhabdomyosarcoma Pneumothorax Gingival fibromatosis Increased level of hippuric acid in urine Ungual fibroma Sparse hair Diarrhea Malnutrition Hypoglycemia Jaundice Umbilical hernia Osteoporosis Dementia Pectus excavatum Hernia Folate deficiency Body odor Confetti-like hypopigmented macules Hyperphenylalaninemia Muscle weakness Micrognathia Prenatal maternal abnormality Subependymal giant-cell astrocytoma Rhabdomyoma Subungual fibromas Achromatic retinal patches Microphakia Pulmonary lymphangiomyomatosis Tarsal synostosis Pili torti Prolonged neonatal jaundice Thick lower lip vermilion Overhanging nasal tip Clubbing Short metatarsal Mutism Sleep apnea Finger clinodactyly Truncal ataxia Open mouth Narrow forehead Overlapping toe Cyanosis Convex nasal ridge Wide intermamillary distance Prominent nose Anemia Headache Abnormality of cardiovascular system morphology Depressivity Abdominal distention Cupped ear Supernumerary nipple Abnormal heart morphology Clubbing of fingers Thickened helices Large beaked nose Square face Breathing dysregulation Small cerebral cortex Failure of eruption of permanent teeth Narrow foot Intermittent hyperventilation Abnormality of the helix Echolalia Aphasia Broad fingertip Misalignment of teeth Esophagitis Acrocyanosis Triangular nasal tip Hiatus hernia Hyperventilation Hodgkin lymphoma Dysphasia Single transverse palmar crease Tapered finger Abnormality of lipid metabolism Venous insufficiency Abnormality of the skeletal system Depressed nasal bridge Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Spontaneous hematomas Arterial stenosis Trichorrhexis nodosa Spontaneous abortion Obsessive-compulsive behavior Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Abnormal pattern of respiration Woolly hair Hypothermia Atypical scarring of skin Exostoses Talipes equinovarus Short neck Small hand Thick eyebrow Abnormality of the pancreas Osteopenia Irritability Skin rash Pruritus Abnormality of the cerebral white matter Nausea Asthma Thick vermilion border Short philtrum Clinodactyly Protruding ear Abnormality of the pinna Apnea Delayed myelination Intellectual disability, moderate Eczema Micropenis Coarctation of aorta Psychosis Astrocytoma Intestinal pseudo-obstruction Wolff-Parkinson-White syndrome Bilateral ptosis Abnormality of the pulmonary artery Titubation Speech apraxia Hypoplasia of the fovea Hearing abnormality Hypoplasia of the iris Aniridia Brisk reflexes Postural tremor Slurred speech Scanning speech Poor head control Low anterior hairline Involuntary movements Apraxia High, narrow palate Pulmonic stenosis Synophrys Congenital cataract Corneal opacity Broad distal phalanx of finger Craniofacial asymmetry Muscular hypotonia of the trunk Focal-onset seizure Hyperkinesis Drooling Cerebral palsy Aspiration Exotropia Clumsiness Broad-based gait Status epilepticus Overgrowth Macroglossia Truncal titubation Hypoplasia of the maxilla Falls Infertility Hypermetropia Obesity Kyphosis Macrocephaly Fever Frontal cortical atrophy Coloboma Downslanted palpebral fissures Polyphagia Dysmetria Saccadic smooth pursuit Dilated fourth ventricle Abnormality of the retinal vasculature Enlarged cisterna magna Hyperactive deep tendon reflexes Gaze-evoked nystagmus Dysdiadochokinesis Intention tremor Gliosis Gait disturbance Epicanthus Delayed speech and language development Hyperplasia of the maxilla Sandal gap Inability to walk Flat face Abnormal cardiac septum morphology Narrow mouth Short nose Brachydactyly Nonprogressive cerebellar ataxia Long philtrum Ptosis Hip dysplasia Aberrant melanosome maturation Intermittent thrombocytopenia Congenital neutropenia Granulocytopenia Interstitial pneumonitis Acetabular dysplasia Periodontitis Pulmonary fibrosis Recurrent bacterial infections Neutropenia Immunodeficiency Smooth philtrum Carious teeth Respiratory tract infection Conductive hearing impairment Photophobia Retrognathia Posteriorly rotated ears Recurrent respiratory infections Thrombocytopenia Recurrent infections Flat occiput Keratoconus Abnormality of the respiratory system Neonatal asphyxia Congestive heart failure Respiratory insufficiency Neoplasm Spasmus nutans Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Hypoplasia of the cochlea Hypothyroidism Meconium ileus Peripheral hypomyelination Spotty hyperpigmentation Decreased lacrimation Cerebral dysmyelination Microcolon White eyebrow White eyelashes Alacrima Renal insufficiency Papule White forelock Macule Skin tags Gingivitis Neoplasm of the pancreas Multiple renal cysts Nevus flammeus Renal cell carcinoma Hamartoma Multiple cafe-au-lait spots Infantile spasms Cortical dysplasia Iris coloboma Emphysema Abnormality of neuronal migration Precocious puberty Atrioventricular block Increased intracranial pressure Bradycardia Cafe-au-lait spot Subcutaneous nodule Renal cyst Ileus Demyelinating peripheral neuropathy Atonic seizures Sleep-wake cycle disturbance Hypogonadism Myoclonus Areflexia Peripheral neuropathy Hypertension Anisometropia Paroxysmal bursts of laughter Tongue thrusting Large foramen magnum Inappropriate laughter Abnormality of the nervous system Limb tremor Moderate global developmental delay Profound global developmental delay Short attention span Progressive gait ataxia Epileptic spasms Overweight Drowsiness Protruding tongue Abdominal pain Telecanthus Heterochromia iridis Spastic paraparesis Abnormal eyebrow morphology Congenital nystagmus Premature graying of hair Intestinal obstruction Portal hypertension Decreased nerve conduction velocity CNS hypomyelination Anosmia Torticollis Leukodystrophy Distal muscle weakness Hypohidrosis Spastic tetraplegia Peripheral demyelination Underdeveloped nasal alae Tetraplegia Coma Distal sensory impairment Distal amyotrophy Arthrogryposis multiplex congenita Abnormal pyramidal sign Maternal hyperphenylalaninemia



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